UniProtKB - Q3B820 (F161A_HUMAN)
Protein
Protein FAM161A
Gene
FAM161A
Organism
Homo sapiens (Human)
Status
Functioni
Involved in ciliogenesis.1 Publication
GO - Molecular functioni
- identical protein binding Source: UniProtKB
- microtubule binding Source: UniProtKB
GO - Biological processi
- cilium assembly Source: UniProtKB
- cilium organization Source: GO_Central
- positive regulation of protein acetylation Source: UniProtKB
- response to stimulus Source: UniProtKB-KW
- visual perception Source: UniProtKB-KW
Keywordsi
Biological process | Cilium biogenesis/degradation, Sensory transduction, Vision |
Enzyme and pathway databases
PathwayCommonsi | Q3B820 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein FAM161A |
Gene namesi | Name:FAM161A |
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:ENSG00000170264.12 |
HGNCi | HGNC:25808, FAM161A |
MIMi | 613596, gene |
neXtProti | NX_Q3B820 |
Subcellular locationi
Cytoskeleton
- cilium basal body 1 Publication
Other locations
- cilium 1 Publication
Note: Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.
Cytoskeleton
- astral microtubule Source: UniProtKB
- centrosome Source: UniProtKB
- ciliary basal body Source: UniProtKB
- mitotic spindle Source: UniProtKB
- mitotic spindle pole Source: UniProtKB
- spindle microtubule Source: UniProtKB
Other locations
- photoreceptor connecting cilium Source: UniProtKB
- photoreceptor inner segment Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 28 (RP28)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083934 | 315 – 660 | Missing in RP28. 1 PublicationAdd BLAST | 346 |
Keywords - Diseasei
Ciliopathy, Disease mutation, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 84140 |
GeneReviewsi | FAM161A |
MalaCardsi | FAM161A |
MIMi | 606068, phenotype |
OpenTargetsi | ENSG00000170264 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA162386876 |
Miscellaneous databases
Pharosi | Q3B820, Tbio |
Polymorphism and mutation databases
BioMutai | FAM161A |
DMDMi | 182705173 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000329052 | 1 – 660 | Protein FAM161AAdd BLAST | 660 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 468 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 484 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
EPDi | Q3B820 |
jPOSTi | Q3B820 |
MassIVEi | Q3B820 |
MaxQBi | Q3B820 |
PeptideAtlasi | Q3B820 |
PRIDEi | Q3B820 |
ProteomicsDBi | 61665 [Q3B820-1] 61666 [Q3B820-2] 61667 [Q3B820-3] |
PTM databases
iPTMneti | Q3B820 |
PhosphoSitePlusi | Q3B820 |
Expressioni
Tissue specificityi
Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the most abundant in all tissues tested.2 Publications
Gene expression databases
Bgeei | ENSG00000170264, Expressed in pigmented layer of retina and 175 other tissues |
ExpressionAtlasi | Q3B820, baseline and differential |
Genevisiblei | Q3B820, HS |
Organism-specific databases
HPAi | ENSG00000170264, Low tissue specificity |
Interactioni
Subunit structurei
Interacts (via C-terminus) with microtubules.
Interacts with LCA5, CEP290 and SDCCAG8.
Interacts with FAM161B.
Interacts with POC1B.
Interacts with CEP78 (PubMed:27588451).
4 PublicationsBinary interactionsi
Q3B820
GO - Molecular functioni
- identical protein binding Source: UniProtKB
- microtubule binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123909, 146 interactors |
IntActi | Q3B820, 146 interactors |
MINTi | Q3B820 |
STRINGi | 9606.ENSP00000385158 |
Miscellaneous databases
RNActi | Q3B820, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 93 – 120 | Sequence analysisAdd BLAST | 28 | |
Coiled coili | 296 – 320 | Sequence analysisAdd BLAST | 25 | |
Coiled coili | 522 – 552 | Sequence analysisAdd BLAST | 31 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 47 – 52 | Poly-Glu | 6 | |
Compositional biasi | 609 – 658 | Glu-richAdd BLAST | 50 |
Sequence similaritiesi
Belongs to the FAM161 family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QRC3, Eukaryota |
GeneTreei | ENSGT00940000157824 |
HOGENOMi | CLU_010955_0_1_1 |
InParanoidi | Q3B820 |
OMAi | TVCEPFD |
OrthoDBi | 1085171at2759 |
PhylomeDBi | Q3B820 |
TreeFami | TF321199 |
Family and domain databases
InterProi | View protein in InterPro IPR019579, UPF0564 |
Pfami | View protein in Pfam PF10595, UPF0564, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q3B820-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MATSHRVAKL VASSLQTPVN PITGARVAQY EREDPLKALA AAEAILEDEE
60 70 80 90 100
EEKVAQPAGA SADLNTSFSG VDEHAPISYE DFVNFPDIHH SNEEYFKKVE
110 120 130 140 150
ELKAAHIETM AKLEKMYQDK LHLKEVQPVV IREDSLSDSS RSVSEKNSYH
160 170 180 190 200
PVSLMTSFSE PDLGQSSSLY VSSSEEELPN LEKEYPRKNR MMTYAKELIN
210 220 230 240 250
NMWTDFCVED YIRCKDTGFH AAEKRRKKRK EWVPTITVPE PFQMMIREQK
260 270 280 290 300
KKEESMKSKS DIEMVHKALK KQEEDPEYKK KFRANPVPAS VFLPLYHDLV
310 320 330 340 350
KQKEERRRSL KEKSKEALLA SQKPFKFIAR EEQKRAAREK QLRDFLKYKK
360 370 380 390 400
KTNRFKARPI PRSTYGSTTN DKLKEEELYR NLRTQLRAQE HLQNSSPLPC
410 420 430 440 450
RSACGCRNPR CPEQAVKLKC KHKVRCPTPD FEDLPERYQK HLSEHKSPKL
460 470 480 490 500
LTVCKPFDLH ASPHASIKRE KILADIEADE ENLKETRWPY LSPRRKSPVR
510 520 530 540 550
CAGVNPVPCN CNPPVPTVSS RGREQAVRKS EKERMREYQR ELEEREEKLK
560 570 580 590 600
KRPLLFERVA QKNARMAAEK HYSNTLKALG ISDEFVSKKG QSGKVLEYFN
610 620 630 640 650
NQETKSVTED KESFNEEEKI EERENGEENY FIDTNSQDSY KEKDEANEES
660
EEEKSVEESH
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C4C9 | H7C4C9_HUMAN | Protein FAM161A | FAM161A | 601 | Annotation score: | ||
F8W731 | F8W731_HUMAN | Protein FAM161A | FAM161A | 75 | Annotation score: | ||
F8WCZ8 | F8WCZ8_HUMAN | Protein FAM161A | FAM161A | 142 | Annotation score: |
Sequence cautioni
The sequence BAG58969 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 145 | E → G in BX648834 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 167 | S → F in BAB14544 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 534 | R → M in BAG58969 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_060180 | 107 | I → M1 PublicationCorresponds to variant dbSNP:rs11125895EnsemblClinVar. | 1 | |
Natural variantiVAR_042630 | 236 | I → V. Corresponds to variant dbSNP:rs17513722EnsemblClinVar. | 1 | |
Natural variantiVAR_042631 | 273 | E → K. Corresponds to variant dbSNP:rs6733774EnsemblClinVar. | 1 | |
Natural variantiVAR_083934 | 315 – 660 | Missing in RP28. 1 PublicationAdd BLAST | 346 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_032935 | 1 – 109 | Missing in isoform 2. 1 PublicationAdd BLAST | 109 | |
Alternative sequenceiVSP_039126 | 527 | V → VRRSLEEKKMLEEERNRILT KQKQRMKELQKLLTTRAKAY DSHQSLAQISKSRVKCL in isoform 3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BX648834 mRNA No translation available. BX649029 mRNA No translation available. AC107081 Genomic DNA No translation available. AK023367 mRNA Translation: BAB14544.1 AK296255 mRNA Translation: BAG58969.1 Different initiation. BC107162 mRNA No translation available. BC107163 mRNA No translation available. |
CCDSi | CCDS42687.2 [Q3B820-1] CCDS56120.1 [Q3B820-3] |
RefSeqi | NP_001188472.1, NM_001201543.1 [Q3B820-3] NP_115556.2, NM_032180.2 [Q3B820-1] XP_016860561.1, XM_017005072.1 [Q3B820-2] |
Genome annotation databases
Ensembli | ENST00000404929; ENSP00000385158; ENSG00000170264 [Q3B820-3] ENST00000405894; ENSP00000385893; ENSG00000170264 [Q3B820-1] |
GeneIDi | 84140 |
KEGGi | hsa:84140 |
UCSCi | uc002sbm.5, human [Q3B820-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BX648834 mRNA No translation available. BX649029 mRNA No translation available. AC107081 Genomic DNA No translation available. AK023367 mRNA Translation: BAB14544.1 AK296255 mRNA Translation: BAG58969.1 Different initiation. BC107162 mRNA No translation available. BC107163 mRNA No translation available. |
CCDSi | CCDS42687.2 [Q3B820-1] CCDS56120.1 [Q3B820-3] |
RefSeqi | NP_001188472.1, NM_001201543.1 [Q3B820-3] NP_115556.2, NM_032180.2 [Q3B820-1] XP_016860561.1, XM_017005072.1 [Q3B820-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123909, 146 interactors |
IntActi | Q3B820, 146 interactors |
MINTi | Q3B820 |
STRINGi | 9606.ENSP00000385158 |
PTM databases
iPTMneti | Q3B820 |
PhosphoSitePlusi | Q3B820 |
Polymorphism and mutation databases
BioMutai | FAM161A |
DMDMi | 182705173 |
Proteomic databases
EPDi | Q3B820 |
jPOSTi | Q3B820 |
MassIVEi | Q3B820 |
MaxQBi | Q3B820 |
PeptideAtlasi | Q3B820 |
PRIDEi | Q3B820 |
ProteomicsDBi | 61665 [Q3B820-1] 61666 [Q3B820-2] 61667 [Q3B820-3] |
Protocols and materials databases
Antibodypediai | 30688, 73 antibodies |
DNASUi | 84140 |
Genome annotation databases
Ensembli | ENST00000404929; ENSP00000385158; ENSG00000170264 [Q3B820-3] ENST00000405894; ENSP00000385893; ENSG00000170264 [Q3B820-1] |
GeneIDi | 84140 |
KEGGi | hsa:84140 |
UCSCi | uc002sbm.5, human [Q3B820-1] |
Organism-specific databases
CTDi | 84140 |
DisGeNETi | 84140 |
EuPathDBi | HostDB:ENSG00000170264.12 |
GeneCardsi | FAM161A |
GeneReviewsi | FAM161A |
HGNCi | HGNC:25808, FAM161A |
HPAi | ENSG00000170264, Low tissue specificity |
MalaCardsi | FAM161A |
MIMi | 606068, phenotype 613596, gene |
neXtProti | NX_Q3B820 |
OpenTargetsi | ENSG00000170264 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA162386876 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRC3, Eukaryota |
GeneTreei | ENSGT00940000157824 |
HOGENOMi | CLU_010955_0_1_1 |
InParanoidi | Q3B820 |
OMAi | TVCEPFD |
OrthoDBi | 1085171at2759 |
PhylomeDBi | Q3B820 |
TreeFami | TF321199 |
Enzyme and pathway databases
PathwayCommonsi | Q3B820 |
Miscellaneous databases
BioGRID-ORCSi | 84140, 4 hits in 847 CRISPR screens |
ChiTaRSi | FAM161A, human |
GenomeRNAii | 84140 |
Pharosi | Q3B820, Tbio |
PROi | PR:Q3B820 |
RNActi | Q3B820, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170264, Expressed in pigmented layer of retina and 175 other tissues |
ExpressionAtlasi | Q3B820, baseline and differential |
Genevisiblei | Q3B820, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019579, UPF0564 |
Pfami | View protein in Pfam PF10595, UPF0564, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | F161A_HUMAN | |
Accessioni | Q3B820Primary (citable) accession number: Q3B820 Secondary accession number(s): B4DJV7, Q9H8R2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 8, 2008 |
Last sequence update: | April 8, 2008 | |
Last modified: | December 2, 2020 | |
This is version 123 of the entry and version 2 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations