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HAP1_HUMAN

Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to facilitate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17). [View more on UniProt]

Interacting region for partners were not defined.

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No data found.

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in HAP1_HUMAN
GO:0043168 anion binding 29.3103 4 no
GO:0000166 nucleotide binding 27.5862 4 no
GO:0017076 purine nucleotide binding 27.5862 5 no
GO:0030554 adenyl nucleotide binding 25.8621 6 no
GO:0032555 purine ribonucleotide binding 25.8621 4 no
GO:0035639 purine ribonucleoside triphosphate binding 25.8621 4 no
GO:0003723 RNA binding 25.8621 4 no
GO:0005524 ATP binding 24.1379 5 no
GO:0032559 adenyl ribonucleotide binding 24.1379 5 no
GO:0017022 myosin binding 3.4483 4 yes
GO:0043121 neurotrophin binding 3.4483 4 yes
GO:0048403 brain-derived neurotrophic factor binding 3.4483 5 yes

Biological process

Term Name % Distance from top the of the tree Annotated in HAP1_HUMAN
GO:0060255 regulation of macromolecule metabolic process 44.8276 4 yes
GO:0006996 organelle organization 44.8276 4 yes
GO:0048522 positive regulation of cellular process 44.8276 4 yes
GO:0080090 regulation of primary metabolic process 41.3793 4 yes
GO:0031323 regulation of cellular metabolic process 39.6552 4 no
GO:0048523 negative regulation of cellular process 34.4828 4 no
GO:0009889 regulation of biosynthetic process 32.7586 4 no
GO:0010468 regulation of gene expression 32.7586 6 no
GO:0010556 regulation of macromolecule biosynthetic process 32.7586 5 no
GO:0031326 regulation of cellular biosynthetic process 32.7586 5 no
GO:0008104 protein localization 32.7586 4 yes
GO:0051246 regulation of protein metabolic process 31.0345 5 yes
GO:0010646 regulation of cell communication 31.0345 4 yes
GO:0051049 regulation of transport 31.0345 4 yes
GO:0022607 cellular component assembly 27.5862 4 no
GO:0009892 negative regulation of metabolic process 27.5862 4 yes
GO:0010605 negative regulation of macromolecule metabolic process 27.5862 5 yes
GO:0009893 positive regulation of metabolic process 25.8621 4 no
GO:0031325 positive regulation of cellular metabolic process 25.8621 5 no
GO:0051128 regulation of cellular component organization 25.8621 4 yes
GO:0009891 positive regulation of biosynthetic process 24.1379 5 no
GO:0010557 positive regulation of macromolecule biosynthetic process 24.1379 6 no
GO:0010604 positive regulation of macromolecule metabolic process 24.1379 5 no
GO:0031328 positive regulation of cellular biosynthetic process 24.1379 6 no
GO:0071702 organic substance transport 24.1379 4 no
GO:0071705 nitrogen compound transport 24.1379 4 no
GO:0009966 regulation of signal transduction 24.1379 4 yes
GO:0031324 negative regulation of cellular metabolic process 22.4138 5 no
GO:0019219 regulation of nucleobase-containing compound metabolic process 22.4138 5 no
GO:0015031 protein transport 22.4138 4 no
GO:0009894 regulation of catabolic process 20.6897 4 no
GO:0010628 positive regulation of gene expression 20.6897 7 no
GO:0071310 cellular response to organic substance 20.6897 4 no
GO:0048584 positive regulation of response to stimulus 20.6897 4 yes
GO:0051050 positive regulation of transport 20.6897 4 yes
GO:0060341 regulation of cellular localization 18.9655 4 yes
GO:0023056 positive regulation of signaling 18.9655 4 yes
GO:0033043 regulation of organelle organization 18.9655 5 yes
GO:0051248 negative regulation of protein metabolic process 17.2414 6 yes
GO:0060627 regulation of vesicle-mediated transport 17.2414 4 yes
GO:1903530 regulation of secretion by cell 17.2414 4 yes
GO:0010647 positive regulation of cell communication 17.2414 5 yes
GO:0030030 cell projection organization 17.2414 4 yes
GO:0051046 regulation of secretion 17.2414 5 yes
GO:0051130 positive regulation of cellular component organization 17.2414 5 yes
GO:2000026 regulation of multicellular organismal development 15.5172 4 yes
GO:0010638 positive regulation of organelle organization 15.5172 6 yes
GO:0044087 regulation of cellular component biogenesis 15.5172 4 yes
GO:0045595 regulation of cell differentiation 15.5172 4 yes
GO:0051240 positive regulation of multicellular organismal process 15.5172 4 yes
GO:0051650 establishment of vesicle localization 13.7931 4 yes
GO:0060284 regulation of cell development 13.7931 5 yes
GO:0007005 mitochondrion organization 13.7931 5 yes
GO:0009967 positive regulation of signal transduction 13.7931 5 yes
GO:0030705 cytoskeleton-dependent intracellular transport 13.7931 4 yes
GO:0044089 positive regulation of cellular component biogenesis 13.7931 5 yes
GO:0099111 microtubule-based transport 12.0690 4 yes
GO:0010970 transport along microtubule 12.0690 4 yes
GO:0017157 regulation of exocytosis 12.0690 5 yes
GO:0051094 positive regulation of developmental process 12.0690 4 yes
GO:0072384 organelle transport along microtubule 10.3448 4 yes
GO:0099177 regulation of trans-synaptic signaling 10.3448 4 yes
GO:0099518 vesicle cytoskeletal trafficking 10.3448 5 yes
GO:0032886 regulation of microtubule-based process 10.3448 4 yes
GO:0043269 regulation of monoatomic ion transport 10.3448 5 yes
GO:0045597 positive regulation of cell differentiation 10.3448 5 yes
GO:0047496 vesicle transport along microtubule 10.3448 5 yes
GO:0050804 modulation of chemical synaptic transmission 10.3448 5 yes
GO:0098916 anterograde trans-synaptic signaling 8.6207 6 yes
GO:0098930 axonal transport 8.6207 6 yes
GO:0099536 synaptic signaling 8.6207 4 yes
GO:0099537 trans-synaptic signaling 8.6207 5 yes
GO:1902115 regulation of organelle assembly 8.6207 5 yes
GO:0006605 protein targeting 8.6207 4 yes
GO:0007268 chemical synaptic transmission 8.6207 7 yes
GO:0008088 axo-dendritic transport 8.6207 5 yes
GO:0008089 anterograde axonal transport 8.6207 7 yes
GO:0010959 regulation of metal ion transport 8.6207 6 yes
GO:0022898 regulation of transmembrane transporter activity 8.6207 4 yes
GO:0031344 regulation of cell projection organization 8.6207 5 yes
GO:0032386 regulation of intracellular transport 8.6207 5 yes
GO:0034762 regulation of transmembrane transport 8.6207 4 yes
GO:0043270 positive regulation of monoatomic ion transport 8.6207 5 yes
GO:0051282 regulation of sequestering of calcium ion 6.8966 4 yes
GO:0051924 regulation of calcium ion transport 6.8966 7 yes
GO:0051960 regulation of nervous system development 6.8966 5 yes
GO:0120035 regulation of plasma membrane bounded cell projection organization 6.8966 6 yes
GO:1901019 regulation of calcium ion transmembrane transporter activity 6.8966 6 yes
GO:1903169 regulation of calcium ion transmembrane transport 6.8966 7 yes
GO:1904062 regulation of monoatomic cation transmembrane transport 6.8966 6 yes
GO:0007167 enzyme-linked receptor protein signaling pathway 6.8966 4 yes
GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway 6.8966 5 yes
GO:0008090 retrograde axonal transport 6.8966 7 yes
GO:0010720 positive regulation of cell development 6.8966 6 yes
GO:0031346 positive regulation of cell projection organization 6.8966 6 yes
GO:0032412 regulation of monoatomic ion transmembrane transporter activity 6.8966 5 yes
GO:0034765 regulation of monoatomic ion transmembrane transport 6.8966 5 yes
GO:0046903 secretion 6.8966 4 yes
GO:0050767 regulation of neurogenesis 6.8966 6 yes
GO:0051279 regulation of release of sequestered calcium ion into cytosol 5.1724 5 yes
GO:0051281 positive regulation of release of sequestered calcium ion into cytosol 5.1724 6 yes
GO:0051654 establishment of mitochondrion localization 5.1724 4 yes
GO:0051928 positive regulation of calcium ion transport 5.1724 6 yes
GO:0060491 regulation of cell projection assembly 5.1724 5 yes
GO:0120032 regulation of plasma membrane bounded cell projection assembly 5.1724 6 yes
GO:0120034 positive regulation of plasma membrane bounded cell projection assembly 5.1724 6 yes
GO:1901021 positive regulation of calcium ion transmembrane transporter activity 5.1724 6 yes
GO:1902017 regulation of cilium assembly 5.1724 6 yes
GO:1902117 positive regulation of organelle assembly 5.1724 6 yes
GO:1904064 positive regulation of cation transmembrane transport 5.1724 7 yes
GO:1904427 positive regulation of calcium ion transmembrane transport 5.1724 7 yes
GO:2001257 regulation of cation channel activity 5.1724 6 yes
GO:2001259 positive regulation of cation channel activity 5.1724 6 yes
GO:0007420 brain development 5.1724 4 yes
GO:0022008 neurogenesis 5.1724 4 yes
GO:0031585 regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 5.1724 6 yes
GO:0031587 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 5.1724 6 yes
GO:0032228 regulation of synaptic transmission, GABAergic 5.1724 6 yes
GO:0032230 positive regulation of synaptic transmission, GABAergic 5.1724 6 yes
GO:0032411 positive regulation of transporter activity 5.1724 4 yes
GO:0032414 positive regulation of ion transmembrane transporter activity 5.1724 5 yes
GO:0034643 establishment of mitochondrion localization, microtubule-mediated 5.1724 4 yes
GO:0034764 positive regulation of transmembrane transport 5.1724 5 yes
GO:0034767 positive regulation of monoatomic ion transmembrane transport 5.1724 6 yes
GO:0045724 positive regulation of cilium assembly 5.1724 7 yes
GO:0047497 mitochondrion transport along microtubule 5.1724 5 yes
GO:0048311 mitochondrion distribution 5.1724 4 yes
GO:0050806 positive regulation of synaptic transmission 5.1724 5 yes
GO:0051962 positive regulation of nervous system development 3.4483 5 yes
GO:0060632 regulation of microtubule-based movement 3.4483 5 yes
GO:0098957 anterograde axonal transport of mitochondrion 3.4483 7 yes
GO:1901184 regulation of ERBB signaling pathway 3.4483 5 yes
GO:1901186 positive regulation of ERBB signaling pathway 3.4483 6 yes
GO:1902003 regulation of amyloid-beta formation 3.4483 5 yes
GO:1902430 negative regulation of amyloid-beta formation 3.4483 6 yes
GO:1902513 regulation of organelle transport along microtubule 3.4483 6 yes
GO:1902855 regulation of non-motile cilium assembly 3.4483 7 yes
GO:1902857 positive regulation of non-motile cilium assembly 3.4483 8 yes
GO:1902991 regulation of amyloid precursor protein catabolic process 3.4483 6 yes
GO:1902992 negative regulation of amyloid precursor protein catabolic process 3.4483 7 yes
GO:0019896 axonal transport of mitochondrion 3.4483 6 yes
GO:0021979 hypothalamus cell differentiation 3.4483 4 yes
GO:0032899 regulation of neurotrophin production 3.4483 4 yes
GO:0032901 positive regulation of neurotrophin production 3.4483 5 yes
GO:0034248 regulation of amide metabolic process 3.4483 4 yes
GO:0034249 negative regulation of amide metabolic process 3.4483 5 yes
GO:0038179 neurotrophin signaling pathway 3.4483 4 yes
GO:0042058 regulation of epidermal growth factor receptor signaling pathway 3.4483 6 yes
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway 3.4483 7 yes
GO:0048011 neurotrophin TRK receptor signaling pathway 3.4483 5 yes
GO:0050769 positive regulation of neurogenesis 3.4483 6 yes

Disease

No data found.

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
GRIP1_HUMAN [view entry] [view interactions] Low throughput yes yes
1433E_HUMAN [view entry] [view interactions] Low throughput yes yes
HD_HUMAN [view entry] [view interactions] Low throughput yes yes
HAP1_HUMAN [view entry] [view interactions] Low throughput yes yes
PCM1_HUMAN [view interactions] Low throughput no yes
NFM_HUMAN [view entry] [view interactions] Low throughput yes yes
KIF5A_HUMAN [view entry] [view interactions] Low throughput yes yes
DCTN1_HUMAN [view entry] [view interactions] Low throughput yes yes
HGS_HUMAN [view entry] [view interactions] Low throughput yes yes
KALRN_HUMAN [view entry] [view interactions] Low throughput yes yes
AHI1_HUMAN [view interactions] Low throughput no yes
ATX3_HUMAN [view interactions] Low throughput no yes
KINH_HUMAN [view entry] [view interactions] Low throughput yes no
KLC1_HUMAN [view entry] [view interactions] Low throughput yes no
KIF5C_HUMAN [view entry] [view interactions] Low throughput yes yes
ITPR1_HUMAN [view entry] [view interactions] Low throughput yes yes
KLC2_HUMAN [view entry] [view interactions] Low throughput yes yes
GBRB3_HUMAN [view entry] [view interactions] Low throughput yes no
DC1I1_HUMAN [view entry] [view interactions] Low throughput yes yes
1433Z_HUMAN [view entry] [view interactions] Low throughput yes yes
SORT_HUMAN [view interactions] Low throughput no yes
NDF1_HUMAN [view interactions] Low throughput no yes
HS71B_HUMAN [view entry] [view interactions] Low throughput yes yes
HS71A_HUMAN [view entry] [view interactions] Low throughput yes yes
CLCB_HUMAN [view entry] [view interactions] Low throughput yes yes
BDNF_HUMAN [view interactions] Low throughput no yes
HSP74_HUMAN [view entry] [view interactions] Low throughput yes yes
BARD1_HUMAN [view interactions] High throughput no yes
LRIF1_HUMAN [view interactions] High throughput no yes
CE126_HUMAN [view interactions] High throughput no no
ZN33B_HUMAN [view interactions] High throughput no no
TBP_HUMAN [view interactions] High throughput no yes
CG025_HUMAN [view interactions] High throughput no yes
CH033_HUMAN [view interactions] High throughput no yes
CDC73_HUMAN [view interactions] High throughput no yes
HMOX2_HUMAN [view entry] [view interactions] High throughput yes yes
RS10_HUMAN [view entry] [view interactions] High throughput yes yes
TAF1D_HUMAN [view interactions] High throughput no yes
TNNT1_HUMAN [view interactions] High throughput no no
MECP2_HUMAN [view interactions] High throughput no yes
ZMAT2_HUMAN [view interactions] High throughput no yes
CDK18_HUMAN [view entry] [view interactions] High throughput yes yes
FA50B_HUMAN [view interactions] High throughput no yes
ZN490_HUMAN [view interactions] High throughput no no
CTSRT_HUMAN [view interactions] High throughput no no
ZN124_HUMAN [view interactions] High throughput no no
PRP31_HUMAN [view interactions] High throughput no yes
CA216_HUMAN [view interactions] High throughput no yes
PKN1_HUMAN [view entry] [view interactions] High throughput yes yes
GBRL2_HUMAN [view entry] [view interactions] High throughput yes yes
ZN648_HUMAN [view interactions] High throughput no no
SCNM1_HUMAN [view interactions] High throughput no no
ZFP1_HUMAN [view interactions] High throughput no no
PPR18_HUMAN [view interactions] High throughput no no
ZN575_HUMAN [view interactions] High throughput no no
CCD13_HUMAN [view interactions] High throughput no no
ZN572_HUMAN [view interactions] High throughput no yes
MSGN1_HUMAN [view interactions] High throughput no no
RHPN1_HUMAN [view interactions] High throughput no yes
ZN835_HUMAN [view interactions] High throughput no no
HXB5_HUMAN [view interactions] High throughput no no
ATPK_HUMAN [view interactions] High throughput no yes
CK5P2_HUMAN [view interactions] High throughput no yes
NDUB9_HUMAN [view entry] [view interactions] High throughput yes yes
PFD1_HUMAN [view interactions] High throughput no yes
PSD11_HUMAN [view entry] [view interactions] High throughput yes yes
RS25_HUMAN [view entry] [view interactions] High throughput yes yes
SNAPN_HUMAN [view interactions] High throughput no yes
STX5_HUMAN [view interactions] High throughput no yes
TNNT3_HUMAN [view interactions] High throughput no no
TOM20_HUMAN [view entry] [view interactions] High throughput yes yes
ZNF24_HUMAN [view interactions] High throughput no yes
CBX8_HUMAN [view interactions] High throughput no yes
CO9A2_HUMAN [view interactions] High throughput no no
CRIP1_HUMAN [view interactions] High throughput no yes
KTBL1_HUMAN [view interactions] High throughput no no
CC113_HUMAN [view interactions] High throughput no no
OGA_HUMAN [view interactions] High throughput no yes
ANKMT_HUMAN [view interactions] High throughput no yes
MPP3_HUMAN [view entry] [view interactions] High throughput yes yes
NP1L5_HUMAN [view interactions] High throughput no yes
NPS3A_HUMAN [view interactions] High throughput no yes
PDCD7_HUMAN [view interactions] High throughput no no
PPID_HUMAN [view entry] [view interactions] High throughput yes yes
PPOX_HUMAN [view interactions] High throughput no no
RER1_HUMAN [view interactions] High throughput no yes
SAS10_HUMAN [view interactions] High throughput no yes
ZNF20_HUMAN [view interactions] High throughput no no
DDX49_HUMAN [view interactions] High throughput no no
EIF3E_HUMAN [view entry] [view interactions] High throughput yes yes
NOP53_HUMAN [view interactions] High throughput no yes
ZN691_HUMAN [view interactions] High throughput no yes
RT09_HUMAN [view interactions] High throughput no yes
SRSF4_HUMAN [view interactions] High throughput no yes
TI17A_HUMAN [view interactions] High throughput no yes
TSYL1_HUMAN [view interactions] High throughput no yes
APLP1_HUMAN [view interactions] High throughput no yes
LC7L2_HUMAN [view interactions] High throughput no yes
FEZ1_HUMAN [view interactions] High throughput no no
GA45G_HUMAN [view interactions] High throughput no yes
GIT1_HUMAN [view entry] [view interactions] High throughput yes yes
KAT7_HUMAN [view interactions] High throughput no yes
KBTB7_HUMAN [view interactions] High throughput no yes
ING5_HUMAN [view interactions] High throughput no yes
GASP2_HUMAN [view entry] [view interactions] High throughput yes yes
MIC60_HUMAN [view entry] [view interactions] High throughput yes yes
IMA1_HUMAN [view entry] [view interactions] High throughput yes yes
BRD7_HUMAN [view interactions] High throughput no yes
KAT5_HUMAN [view interactions] High throughput no yes
VIME_HUMAN [view entry] [view interactions] High throughput yes no
NECD_HUMAN [view interactions] High throughput no no
NOD2_HUMAN [view interactions] High throughput no yes
HDAC4_HUMAN [view interactions] High throughput no yes
AEN_HUMAN [view interactions] High throughput no no
PNKP_HUMAN [view interactions] High throughput no yes
RPB1_HUMAN [view interactions] High throughput no no
SYN1_HUMAN [view entry] [view interactions] High throughput yes no
PABP1_HUMAN [view entry] [view interactions] High throughput yes yes
HS71L_HUMAN [view entry] [view interactions] High throughput yes no
TPM4_HUMAN [view entry] [view interactions] High throughput yes yes
DPYL2_HUMAN [view entry] [view interactions] High throughput yes yes
ANXA1_HUMAN [view entry] [view interactions] High throughput yes no
ACTG_HUMAN [view entry] [view interactions] High throughput yes yes
ANXA2_HUMAN [view entry] [view interactions] High throughput yes no
G3P_HUMAN [view entry] [view interactions] High throughput yes yes
UBC_HUMAN [view entry] [view interactions] High throughput yes yes
H4_HUMAN [view interactions] High throughput no yes
ARGI1_HUMAN [view interactions] High throughput no no
EF1A1_HUMAN [view entry] [view interactions] High throughput yes yes
DDX1_HUMAN [view entry] [view interactions] High throughput yes yes
GBB1_HUMAN [view entry] [view interactions] High throughput yes yes
PRPS2_HUMAN [view interactions] High throughput no no
ACTB_HUMAN [view entry] [view interactions] High throughput yes no
SC6A4_HUMAN [view entry] [view interactions] High throughput yes no
TXLNG_HUMAN [view interactions] High throughput no no
HOOK3_HUMAN [view entry] [view interactions] High throughput yes yes
IMPCT_HUMAN [view interactions] High throughput no yes
MYPT1_HUMAN [view entry] [view interactions] High throughput yes yes
MKLN1_HUMAN [view entry] [view interactions] High throughput yes yes
NBR1_HUMAN [view interactions] High throughput no yes
NOSIP_HUMAN [view interactions] High throughput no yes
TXLNA_HUMAN [view interactions] High throughput no yes
CCD96_HUMAN [view interactions] High throughput no no
ASPP2_HUMAN [view interactions] High throughput no yes
C2D1A_HUMAN [view entry] [view interactions] High throughput yes yes
P52K_HUMAN [view interactions] High throughput no yes