UniProtKB - Q9UBU6 (FA8A1_HUMAN)
Protein
Protein FAM8A1
Gene
FAM8A1
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in the assembly of the HRD1 complex, a complex involved in the ubiquitin-proteasome-dependent process of ER-associated degradation (ERAD).1 Publication
Enzyme and pathway databases
PathwayCommonsi | Q9UBU6 |
SIGNORi | Q9UBU6 |
Protein family/group databases
TCDBi | 2.A.133.1.4, the rdd na+(li+)(k+)/h+ antiporter (rdd) family |
Names & Taxonomyi
Protein namesi | Recommended name: Protein FAM8A1Alternative name(s): Autosomal highly conserved protein |
Gene namesi | Name:FAM8A1 Synonyms:AHCP |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000137414.5 |
HGNCi | HGNC:16372, FAM8A1 |
MIMi | 618409, gene |
neXtProti | NX_Q9UBU6 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 257 – 277 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 304 – 324 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 371 – 391 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 120 – 122 | WLW → ALA: Decreased interaction with SYVN1 and HERPUD1. 1 Publication | 3 | |
Mutagenesisi | 131 | W → A: Decreased interaction with HERPUD1; no effect on interaction with SYVN1. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 51439 |
OpenTargetsi | ENSG00000137414 |
PharmGKBi | PA27986 |
Miscellaneous databases
Pharosi | Q9UBU6, Tbio |
Polymorphism and mutation databases
BioMutai | FAM8A1 |
DMDMi | 74753230 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000087167 | 1 – 413 | Protein FAM8A1Add BLAST | 413 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 229 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9UBU6 |
jPOSTi | Q9UBU6 |
MassIVEi | Q9UBU6 |
MaxQBi | Q9UBU6 |
PaxDbi | Q9UBU6 |
PeptideAtlasi | Q9UBU6 |
PRIDEi | Q9UBU6 |
ProteomicsDBi | 84070 |
PTM databases
iPTMneti | Q9UBU6 |
PhosphoSitePlusi | Q9UBU6 |
Expressioni
Tissue specificityi
Ubiquitously expressed, with a higher level of expression in testis.1 Publication
Gene expression databases
Bgeei | ENSG00000137414, Expressed in Brodmann (1909) area 23 and 248 other tissues |
ExpressionAtlasi | Q9UBU6, baseline and differential |
Genevisiblei | Q9UBU6, HS |
Organism-specific databases
HPAi | ENSG00000137414, Low tissue specificity |
Interactioni
Subunit structurei
Component of the HRD1 complex, which comprises at least SYNV1/HRD1, FAM8A1, HERPUD1/HERP, OS9, SEL1L and UBE2J1. This interaction stabilizes FAM8A1 protein, preventing its proteasomal degradation. FAM8A1 binding to SYNV1 may promote recruitment of HERPUD1 to the HRD1 complex.
1 PublicationProtein-protein interaction databases
BioGRIDi | 119541, 49 interactors |
CORUMi | Q9UBU6 |
IntActi | Q9UBU6, 36 interactors |
MINTi | Q9UBU6 |
STRINGi | 9606.ENSP00000259963 |
Miscellaneous databases
RNActi | Q9UBU6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 242 – 408 | RDDAdd BLAST | 167 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 107 – 139 | Necessary and sufficient to interact with SYVN11 PublicationAdd BLAST | 33 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 59 – 64 | Poly-Ala | 6 | |
Compositional biasi | 164 – 167 | Poly-Pro | 4 |
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4647, Eukaryota |
GeneTreei | ENSGT00390000007346 |
HOGENOMi | CLU_053631_1_0_1 |
InParanoidi | Q9UBU6 |
OMAi | GDHEPVP |
OrthoDBi | 1123503at2759 |
PhylomeDBi | Q9UBU6 |
TreeFami | TF314024 |
Family and domain databases
InterProi | View protein in InterPro IPR039871, FAM8A1 IPR010432, RDD |
PANTHERi | PTHR13659, PTHR13659, 1 hit |
Pfami | View protein in Pfam PF06271, RDD, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9UBU6-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAEGPEEARG HPPGQDDGGG DHEPVPSLRG PPTTAVPCPR DDPQAEPQAP
60 70 80 90 100
GRPTAPGLAA AAAADKLEPP RELRKRGEAA SGSGAELQEQ AGCEAPEAAA
110 120 130 140 150
PRERPARLSA REYSRQVHEW LWQSYCGYLT WHSGLAAFPA YCSPQPSPQS
160 170 180 190 200
FPSGGAAVPQ AAAPPPPQLG YYNPFYFLSP GAAGPDPRTA AGISTPAPVA
210 220 230 240 250
GLGPRAPHVQ ASVRATPVTR VGSAAPSRSP SETGRQAGRE YVIPSLAHRF
260 270 280 290 300
MAEMVDFFIL FFIKATIVLS IMHLSGIKDI SKFAMHYIIE EIDEDTSMED
310 320 330 340 350
LQKMMVVALI YRLLVCFYEI ICIWGAGGAT PGKFLLGLRV VTCDTSVLIA
360 370 380 390 400
PSRVLVIPSS NVSITTSTIR ALIKNFSIAS FFPAFITLLF FQHNRTAYDI
410
VAGTIVVKRN GVR
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF097027 mRNA Translation: AAF07850.1 AK312814 mRNA Translation: BAG35672.1 AL138824 Genomic DNA No translation available. AF097026 Genomic DNA Translation: AAF07849.1 CH471087 Genomic DNA Translation: EAW55382.1 BC047881 mRNA Translation: AAH47881.1 |
CCDSi | CCDS4540.1 |
RefSeqi | NP_057339.1, NM_016255.2 |
Genome annotation databases
Ensembli | ENST00000259963; ENSP00000259963; ENSG00000137414 |
GeneIDi | 51439 |
KEGGi | hsa:51439 |
UCSCi | uc003ncc.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF097027 mRNA Translation: AAF07850.1 AK312814 mRNA Translation: BAG35672.1 AL138824 Genomic DNA No translation available. AF097026 Genomic DNA Translation: AAF07849.1 CH471087 Genomic DNA Translation: EAW55382.1 BC047881 mRNA Translation: AAH47881.1 |
CCDSi | CCDS4540.1 |
RefSeqi | NP_057339.1, NM_016255.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 119541, 49 interactors |
CORUMi | Q9UBU6 |
IntActi | Q9UBU6, 36 interactors |
MINTi | Q9UBU6 |
STRINGi | 9606.ENSP00000259963 |
Protein family/group databases
TCDBi | 2.A.133.1.4, the rdd na+(li+)(k+)/h+ antiporter (rdd) family |
PTM databases
iPTMneti | Q9UBU6 |
PhosphoSitePlusi | Q9UBU6 |
Polymorphism and mutation databases
BioMutai | FAM8A1 |
DMDMi | 74753230 |
Proteomic databases
EPDi | Q9UBU6 |
jPOSTi | Q9UBU6 |
MassIVEi | Q9UBU6 |
MaxQBi | Q9UBU6 |
PaxDbi | Q9UBU6 |
PeptideAtlasi | Q9UBU6 |
PRIDEi | Q9UBU6 |
ProteomicsDBi | 84070 |
Protocols and materials databases
Antibodypediai | 68212, 98 antibodies |
Genome annotation databases
Ensembli | ENST00000259963; ENSP00000259963; ENSG00000137414 |
GeneIDi | 51439 |
KEGGi | hsa:51439 |
UCSCi | uc003ncc.4, human |
Organism-specific databases
CTDi | 51439 |
DisGeNETi | 51439 |
EuPathDBi | HostDB:ENSG00000137414.5 |
GeneCardsi | FAM8A1 |
HGNCi | HGNC:16372, FAM8A1 |
HPAi | ENSG00000137414, Low tissue specificity |
MIMi | 618409, gene |
neXtProti | NX_Q9UBU6 |
OpenTargetsi | ENSG00000137414 |
PharmGKBi | PA27986 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4647, Eukaryota |
GeneTreei | ENSGT00390000007346 |
HOGENOMi | CLU_053631_1_0_1 |
InParanoidi | Q9UBU6 |
OMAi | GDHEPVP |
OrthoDBi | 1123503at2759 |
PhylomeDBi | Q9UBU6 |
TreeFami | TF314024 |
Enzyme and pathway databases
PathwayCommonsi | Q9UBU6 |
SIGNORi | Q9UBU6 |
Miscellaneous databases
BioGRID-ORCSi | 51439, 2 hits in 846 CRISPR screens |
GenomeRNAii | 51439 |
Pharosi | Q9UBU6, Tbio |
PROi | PR:Q9UBU6 |
RNActi | Q9UBU6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137414, Expressed in Brodmann (1909) area 23 and 248 other tissues |
ExpressionAtlasi | Q9UBU6, baseline and differential |
Genevisiblei | Q9UBU6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039871, FAM8A1 IPR010432, RDD |
PANTHERi | PTHR13659, PTHR13659, 1 hit |
Pfami | View protein in Pfam PF06271, RDD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FA8A1_HUMAN | |
Accessioni | Q9UBU6Primary (citable) accession number: Q9UBU6 Secondary accession number(s): B2R725 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 25, 2005 |
Last sequence update: | May 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 137 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot