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UniProtKB - Q3B820 (F161A_HUMAN)

Entry version 125 (07 Apr 2021)
Sequence version 2 (08 Apr 2008)
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Protein

Protein FAM161A

Gene

FAM161A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in ciliogenesis.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • identical protein binding Source: UniProtKB
  • microtubule binding Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation, Sensory transduction, Vision

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q3B820

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein FAM161A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FAM161A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25808, FAM161A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613596, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q3B820

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000170264.12

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 28 (RP28)3 Publications
The disease is caused by variants 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083934315 – 660Missing in RP28. 1 PublicationAdd BLAST346

Keywords - Diseasei

Ciliopathy, Disease variant, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...DisGeNETi		84140

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		FAM161A

MalaCards human disease database

More...MalaCardsi		FAM161A
MIMi606068, phenotype

Open Targets

More...OpenTargetsi		ENSG00000170264

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		791, Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162386876

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q3B820, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FAM161A

Domain mapping of disease mutations (DMDM)

More...DMDMi		182705173

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003290521 – 660Protein FAM161AAdd BLAST660

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki468Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki484Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q3B820

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q3B820

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q3B820

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q3B820

PeptideAtlas

More...PeptideAtlasi		Q3B820

PRoteomics IDEntifications database

More...PRIDEi		Q3B820

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61665 [Q3B820-1]
61666 [Q3B820-2]
61667 [Q3B820-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q3B820

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q3B820

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000170264, Expressed in pigmented layer of retina and 175 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q3B820, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q3B820, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000170264, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q3B820
With#Exp.IntAct
AQP1 [P29972]3EBI-719941,EBI-745213
AXIN2 [Q9Y2T1]3EBI-719941,EBI-4400025
BACH2 [Q9BYV9]3EBI-719941,EBI-1642333
BEGAIN [Q9BUH8]3EBI-719941,EBI-742722
BEND3 [Q5T5X7]3EBI-719941,EBI-1211496
BEND5 [Q7L4P6]3EBI-719941,EBI-724373
BHLHB9 [Q6PI77]3EBI-719941,EBI-11519926
BICD2 - isoform 2 [Q8TD16-2]3EBI-719941,EBI-11975051
CADPS [A2RRN7]6EBI-719941,EBI-10179719
CALCOCO1 [Q9P1Z2]3EBI-719941,EBI-749920
CALCOCO2 [Q13137]6EBI-719941,EBI-739580
CARD9 [Q9H257]4EBI-719941,EBI-751319
CARD9 - isoform 2 [Q9H257-2]6EBI-719941,EBI-11530605
CBY2 [Q8NA61]3EBI-719941,EBI-741724
CBY2 - isoform 2 [Q8NA61-2]5EBI-719941,EBI-11524851
CCDC102B [Q68D86]6EBI-719941,EBI-10171570
CCDC125 [Q86Z20]3EBI-719941,EBI-11977221
CCDC13 [Q8IYE1]3EBI-719941,EBI-10961312
CCDC136 - isoform 2 [Q96JN2-2]3EBI-719941,EBI-10171416
CCDC185 [Q8N715]3EBI-719941,EBI-740814
CCDC57 [Q2TAC2]3EBI-719941,EBI-2808286
CCDC57 - isoform 2 [Q2TAC2-2]6EBI-719941,EBI-10961624
CCDC88B [A6NC98]3EBI-719941,EBI-347573
CCNC [P24863]3EBI-719941,EBI-395261
CCNDBP1 [O95273]5EBI-719941,EBI-748961
CDR2 [Q01850]6EBI-719941,EBI-1181367
CDR2L [Q86X02]3EBI-719941,EBI-11063830
CEP44 [Q9C0F1]3EBI-719941,EBI-744115
CEP57L1 - isoform 2 [Q8IYX8-2]3EBI-719941,EBI-10181988
CEP63 [Q96MT8]3EBI-719941,EBI-741977
CEP63 - isoform 3 [Q96MT8-3]3EBI-719941,EBI-11522539
CEP70 [Q8NHQ1]6EBI-719941,EBI-739624
CEP72 [Q9P209]3EBI-719941,EBI-739498
CTNNA3 - isoform 2 [Q9UI47-2]3EBI-719941,EBI-11962928
DHX32 [Q7L7V1]9EBI-719941,EBI-2807297
DOCK8 - isoform 2 [Q8NF50-2]3EBI-719941,EBI-10174653
EHMT2 [A2ABF9]3EBI-719941,EBI-10174566
EVI5 [O60447]3EBI-719941,EBI-852291
itself4EBI-719941,EBI-719941
FAM9B [Q8IZU0]3EBI-719941,EBI-10175124
FSD2 [A1L4K1]3EBI-719941,EBI-5661036
FXR1 - isoform 2 [P51114-2]3EBI-719941,EBI-11022345
GAS8 [O95995]3EBI-719941,EBI-1052570
GOLGA2 [Q08379]5EBI-719941,EBI-618309
GOLGA6L9 [A6NEM1]3EBI-719941,EBI-5916454
GPBP1 [Q86WP2]3EBI-719941,EBI-2349758
GRIPAP1 [Q4V328]3EBI-719941,EBI-717919
HEXIM2 [Q96MH2]3EBI-719941,EBI-5460660
HMBOX1 [Q6NT76]6EBI-719941,EBI-2549423
HOOK1 [Q9UJC3]5EBI-719941,EBI-746704
HOOK2 - isoform 2 [Q96ED9-2]3EBI-719941,EBI-10961706
IKZF1 [Q13422]3EBI-719941,EBI-745305
INO80E [Q8NBZ0]3EBI-719941,EBI-769401
JRK - isoform 2 [O75564-2]3EBI-719941,EBI-17181882
KANK2 [Q63ZY3]3EBI-719941,EBI-2556193
KASH5 [Q8N6L0]3EBI-719941,EBI-749265
KAT5 [Q92993]3EBI-719941,EBI-399080
KDM1A [O60341]3EBI-719941,EBI-710124
KIAA0753 [Q2KHM9]3EBI-719941,EBI-2805604
KIAA1328 [Q86T90]3EBI-719941,EBI-3437878
KIFC3 - isoform 4 [Q9BVG8-5]3EBI-719941,EBI-14069005
KRTAP10-7 [P60409]3EBI-719941,EBI-10172290
KRTAP10-8 [P60410]3EBI-719941,EBI-10171774
KRTAP10-9 [P60411]3EBI-719941,EBI-10172052
KRTAP2-4 [Q9BYR9]3EBI-719941,EBI-14065470
KRTAP5-7 [Q6L8G8]3EBI-719941,EBI-11987425
KRTAP5-9 [P26371]6EBI-719941,EBI-3958099
LDOC1 [O95751]3EBI-719941,EBI-740738
LMNA [P02545]3EBI-719941,EBI-351935
LURAP1L [Q8IV03]3EBI-719941,EBI-12898559
LZTS1 [Q9Y250]5EBI-719941,EBI-1216080
LZTS2 [Q9BRK4]6EBI-719941,EBI-741037
MAGEA11 [P43364]3EBI-719941,EBI-739552
MCC [P23508]3EBI-719941,EBI-307531
MCM6 [Q14566]3EBI-719941,EBI-374900
MDFI [Q99750]6EBI-719941,EBI-724076
MID2 - isoform 2 [Q9UJV3-2]6EBI-719941,EBI-10172526
MIPOL1 [Q8TD10]6EBI-719941,EBI-2548751
MKRN1 [Q9UHC7]3EBI-719941,EBI-373524
MTUS2 [Q5JR59]3EBI-719941,EBI-742948
MTUS2 - isoform 2 [Q5JR59-3]5EBI-719941,EBI-11522433
NECAB2 - isoform 2 [Q7Z6G3-2]3EBI-719941,EBI-10172876
NINL [Q9Y2I6]3EBI-719941,EBI-719716
NUTM1 [Q86Y26]3EBI-719941,EBI-10178410
OSBPL3 [Q9H4L5]3EBI-719941,EBI-1051317
PDE4DIP [Q5VU43]3EBI-719941,EBI-1105124
PDE4DIP [Q8TBR0]3EBI-719941,EBI-10240575
PHC2 [Q8IXK0]3EBI-719941,EBI-713786
PIBF1 [Q4G0R1]3EBI-719941,EBI-14066006
PICK1 [Q9NRD5]3EBI-719941,EBI-79165
PLEKHG4 [Q58EX7]3EBI-719941,EBI-949255
PNMA1 [Q8ND90]3EBI-719941,EBI-302345
PNMA2 [Q9UL42]3EBI-719941,EBI-302355
POC5 [Q8NA72]6EBI-719941,EBI-2561090
POC5 - isoform 3 [Q8NA72-3]3EBI-719941,EBI-11751537
PPFIA1 [Q13136]5EBI-719941,EBI-745426
PPP2R3C [Q969Q6]3EBI-719941,EBI-2561661
PRKAR1B [P31321]3EBI-719941,EBI-2805516
QARS1 [P47897]3EBI-719941,EBI-347462
RINT1 [Q6NUQ1]3EBI-719941,EBI-726876
ROPN1 [Q9HAT0]3EBI-719941,EBI-1378139
RUBCN [Q92622]3EBI-719941,EBI-2952709
RUNDC3A [Q59EK9]3EBI-719941,EBI-747225
SCNM1 [Q9BWG6]3EBI-719941,EBI-748391
SMARCD1 [Q96GM5]3EBI-719941,EBI-358489
SOGA1 - isoform 4 [O94964-4]3EBI-719941,EBI-14083835
SPRED1 [Q7Z699]3EBI-719941,EBI-5235340
SSX2IP [Q9Y2D8]3EBI-719941,EBI-2212028
STX11 [O75558]3EBI-719941,EBI-714135
SYCE1 [Q8N0S2]3EBI-719941,EBI-6872807
TAX1BP1 [Q86VP1]3EBI-719941,EBI-529518
TBC1D1 [Q86TI0]3EBI-719941,EBI-1644036
TFIP11 [Q9UBB9]9EBI-719941,EBI-1105213
TNIP1 [Q15025]6EBI-719941,EBI-357849
TNIP3 [Q96KP6]3EBI-719941,EBI-2509913
TRAF1 [Q13077]5EBI-719941,EBI-359224
TRAF2 [Q12933]3EBI-719941,EBI-355744
TRIB3 [Q96RU7]3EBI-719941,EBI-492476
TRIM15 [Q9C019]3EBI-719941,EBI-2342111
TRIM27 [P14373]3EBI-719941,EBI-719493
TRIM37 [O94972]3EBI-719941,EBI-741602
TRIM41 [Q8WV44]3EBI-719941,EBI-725997
TRIM54 [Q9BYV2]6EBI-719941,EBI-2130429
TRIM69 - isoform 2 [Q86WT6-2]3EBI-719941,EBI-11525489
TXLNB [Q8N3L3]3EBI-719941,EBI-6116822
VIM [P08670]3EBI-719941,EBI-353844
VPS52 [Q8N1B4]3EBI-719941,EBI-2799833
ZBTB1 [Q9Y2K1]6EBI-719941,EBI-2682961
ZBTB14 [O43829]3EBI-719941,EBI-10176632
ZBTB43 [O43298]3EBI-719941,EBI-740718
ZBTB8A [Q96BR9]6EBI-719941,EBI-742740
ZIM2 [Q9NZV7]3EBI-719941,EBI-11962760
ZNF24 [P17028]3EBI-719941,EBI-707773
ZNF250 - isoform 3 [P15622-3]3EBI-719941,EBI-10177272
ZNF276 [Q8N554]3EBI-719941,EBI-750821
ZNF426 [Q9BUY5]3EBI-719941,EBI-743265
ZNF526 [Q8TF50]3EBI-719941,EBI-11035148
ZNF792 [Q3KQV3]3EBI-719941,EBI-10240849
ZRANB1 [Q9UGI0]3EBI-719941,EBI-527853
ZSCAN12 [O43309]3EBI-719941,EBI-1210440

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123909, 147 interactors

Protein interaction database and analysis system

More...IntActi		Q3B820, 148 interactors

Molecular INTeraction database

More...MINTi		Q3B820

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000385158

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q3B820, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili93 – 120Sequence analysisAdd BLAST28
Coiled coili296 – 320Sequence analysisAdd BLAST25
Coiled coili522 – 552Sequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi47 – 52Poly-Glu6
Compositional biasi609 – 658Glu-richAdd BLAST50

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAM161 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QRC3, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157824

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010955_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q3B820

Identification of Orthologs from Complete Genome Data

More...OMAi		TVCEPFD

Database of Orthologous Groups

More...OrthoDBi		1085171at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q3B820

TreeFam database of animal gene trees

More...TreeFami		TF321199

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019579, UPF0564

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10595, UPF0564, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:660
Mass (Da):76,752
Last modified:April 8, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE2C0D443C1A0DAA5
GO
Isoform 2 (identifier: Q3B820-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.

Show »
Length:551
Mass (Da):64,836
Checksum:iF31A08F7C2AB938E
GO
Isoform 3 (identifier: Q3B820-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     527-527: V → VRRSLEEKKMLEEERNRILTKQKQRMKELQKLLTTRAKAYDSHQSLAQISKSRVKCL

Show »
Length:716
Mass (Da):83,492
Checksum:iC2346158DFD127CD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4C9H7C4C9_HUMAN
Protein FAM161A
FAM161A
601Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W731F8W731_HUMAN
Protein FAM161A
FAM161A
75Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCZ8F8WCZ8_HUMAN
Protein FAM161A
FAM161A
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAG58969 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti145E → G in BX648834 (PubMed:17974005).Curated1
Sequence conflicti167S → F in BAB14544 (PubMed:14702039).Curated1
Sequence conflicti534R → M in BAG58969 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060180107I → M1 PublicationCorresponds to variant dbSNP:rs11125895EnsemblClinVar.1
Natural variantiVAR_042630236I → V. Corresponds to variant dbSNP:rs17513722EnsemblClinVar.1
Natural variantiVAR_042631273E → K. Corresponds to variant dbSNP:rs6733774EnsemblClinVar.1
Natural variantiVAR_083934315 – 660Missing in RP28. 1 PublicationAdd BLAST346

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0329351 – 109Missing in isoform 2. 1 PublicationAdd BLAST109
Alternative sequenceiVSP_039126527V → VRRSLEEKKMLEEERNRILT KQKQRMKELQKLLTTRAKAY DSHQSLAQISKSRVKCL in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS42687.2 [Q3B820-1]
CCDS56120.1 [Q3B820-3]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000404929; ENSP00000385158; ENSG00000170264 [Q3B820-3]
ENST00000405894; ENSP00000385893; ENSG00000170264 [Q3B820-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84140

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84140

UCSC genome browser

More...UCSCi		uc002sbm.5, human [Q3B820-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS42687.2 [Q3B820-1]
CCDS56120.1 [Q3B820-3]
RefSeqiNP_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

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi123909, 147 interactors
IntActiQ3B820, 148 interactors
MINTiQ3B820
STRINGi9606.ENSP00000385158

PTM databases

iPTMnetiQ3B820
PhosphoSitePlusiQ3B820

Genetic variation databases

BioMutaiFAM161A
DMDMi182705173

Proteomic databases

EPDiQ3B820
jPOSTiQ3B820
MassIVEiQ3B820
MaxQBiQ3B820
PeptideAtlasiQ3B820
PRIDEiQ3B820
ProteomicsDBi61665 [Q3B820-1]
61666 [Q3B820-2]
61667 [Q3B820-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30688, 76 antibodies

The DNASU plasmid repository

More...DNASUi		84140

Genome annotation databases

EnsembliENST00000404929; ENSP00000385158; ENSG00000170264 [Q3B820-3]
ENST00000405894; ENSP00000385893; ENSG00000170264 [Q3B820-1]
GeneIDi84140
KEGGihsa:84140
UCSCiuc002sbm.5, human [Q3B820-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84140
DisGeNETi84140

GeneCards: human genes, protein and diseases

More...GeneCardsi		FAM161A
GeneReviewsiFAM161A
HGNCiHGNC:25808, FAM161A
HPAiENSG00000170264, Low tissue specificity
MalaCardsiFAM161A
MIMi606068, phenotype
613596, gene
neXtProtiNX_Q3B820
OpenTargetsiENSG00000170264
Orphaneti791, Retinitis pigmentosa
PharmGKBiPA162386876
VEuPathDBiHostDB:ENSG00000170264.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QRC3, Eukaryota
GeneTreeiENSGT00940000157824
HOGENOMiCLU_010955_0_1_1
InParanoidiQ3B820
OMAiTVCEPFD
OrthoDBi1085171at2759
PhylomeDBiQ3B820
TreeFamiTF321199

Enzyme and pathway databases

PathwayCommonsiQ3B820

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84140, 5 hits in 991 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		FAM161A, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		84140
PharosiQ3B820, Tbio

Protein Ontology

More...PROi		PR:Q3B820
RNActiQ3B820, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000170264, Expressed in pigmented layer of retina and 175 other tissues
ExpressionAtlasiQ3B820, baseline and differential
GenevisibleiQ3B820, HS

Family and domain databases

InterProiView protein in InterPro
IPR019579, UPF0564
PfamiView protein in Pfam
PF10595, UPF0564, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiF161A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q3B820
Secondary accession number(s): B4DJV7, Q9H8R2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: April 7, 2021
This is version 125 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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