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Q3B820

- F161A_HUMAN

UniProt

Q3B820 - F161A_HUMAN

Protein

Protein FAM161A

Gene

FAM161A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 2 (08 Apr 2008)
      Previous versions | rss
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    Functioni

    Involved in ciliogenesis.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. response to stimulus Source: UniProtKB-KW
    3. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Cilium biogenesis/degradation, Sensory transduction, Vision

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM161A
    Gene namesi
    Name:FAM161A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:25808. FAM161A.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium basal body 1 Publication. Cell projectioncilium 1 Publication
    Note: Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. ciliary basal body Source: UniProtKB
    3. cytoplasm Source: UniProtKB-KW
    4. photoreceptor connecting cilium Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 28 (RP28) [MIM:606068]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Retinitis pigmentosa

    Organism-specific databases

    MIMi606068. phenotype.
    Orphaneti791. Retinitis pigmentosa.
    PharmGKBiPA162386876.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 660660Protein FAM161APRO_0000329052Add
    BLAST

    Proteomic databases

    MaxQBiQ3B820.
    PaxDbiQ3B820.
    PRIDEiQ3B820.

    PTM databases

    PhosphoSiteiQ3B820.

    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

    ArrayExpressiQ3B820.
    BgeeiQ3B820.
    CleanExiHS_FAM161A.
    GenevestigatoriQ3B820.

    Organism-specific databases

    HPAiHPA032119.

    Interactioni

    Subunit structurei

    Interacts (via C-terminus) with microtubules. Interacts with LCA5, CEP290 and SDCCAG8. Interacts with FAM161B.2 Publications

    Protein-protein interaction databases

    BioGridi123909. 2 interactions.
    IntActiQ3B820. 1 interaction.
    STRINGi9606.ENSP00000385893.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3B820.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili93 – 12028Sequence AnalysisAdd
    BLAST
    Coiled coili296 – 32025Sequence AnalysisAdd
    BLAST
    Coiled coili522 – 55231Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi47 – 526Poly-Glu
    Compositional biasi609 – 65850Glu-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the FAM161 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG80167.
    HOGENOMiHOG000049209.
    HOVERGENiHBG107870.
    KOiK16772.
    OMAiAEKHYSN.
    PhylomeDBiQ3B820.
    TreeFamiTF321199.

    Family and domain databases

    InterProiIPR019579. UPF0564.
    [Graphical view]
    PfamiPF10595. UPF0564. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q3B820-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' 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

    MATSHRVAKL VASSLQTPVN PITGARVAQY EREDPLKALA AAEAILEDEE    50
    EEKVAQPAGA SADLNTSFSG VDEHAPISYE DFVNFPDIHH SNEEYFKKVE 100
    ELKAAHIETM AKLEKMYQDK LHLKEVQPVV IREDSLSDSS RSVSEKNSYH 150
    PVSLMTSFSE PDLGQSSSLY VSSSEEELPN LEKEYPRKNR MMTYAKELIN 200
    NMWTDFCVED YIRCKDTGFH AAEKRRKKRK EWVPTITVPE PFQMMIREQK 250
    KKEESMKSKS DIEMVHKALK KQEEDPEYKK KFRANPVPAS VFLPLYHDLV 300
    KQKEERRRSL KEKSKEALLA SQKPFKFIAR EEQKRAAREK QLRDFLKYKK 350
    KTNRFKARPI PRSTYGSTTN DKLKEEELYR NLRTQLRAQE HLQNSSPLPC 400
    RSACGCRNPR CPEQAVKLKC KHKVRCPTPD FEDLPERYQK HLSEHKSPKL 450
    LTVCKPFDLH ASPHASIKRE KILADIEADE ENLKETRWPY LSPRRKSPVR 500
    CAGVNPVPCN CNPPVPTVSS RGREQAVRKS EKERMREYQR ELEEREEKLK 550
    KRPLLFERVA QKNARMAAEK HYSNTLKALG ISDEFVSKKG QSGKVLEYFN 600
    NQETKSVTED KESFNEEEKI EERENGEENY FIDTNSQDSY KEKDEANEES 650
    EEEKSVEESH 660
    Length:660
    Mass (Da):76,752
    Last modified:April 8, 2008 - v2
    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.

    Note: No experimental confirmation available.

    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

    Sequence cautioni

    The sequence BAG58969.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti145 – 1451E → G in BX648834. (PubMed:17974005)Curated
    Sequence conflicti167 – 1671S → F in BAB14544. (PubMed:14702039)Curated
    Sequence conflicti534 – 5341R → M in BAG58969. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti107 – 1071I → M.1 Publication
    Corresponds to variant rs11125895 [ dbSNP | Ensembl ].
    VAR_060180
    Natural varianti236 – 2361I → V.
    Corresponds to variant rs17513722 [ dbSNP | Ensembl ].
    VAR_042630
    Natural varianti273 – 2731E → K.
    Corresponds to variant rs6733774 [ dbSNP | Ensembl ].
    VAR_042631

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 109109Missing in isoform 2. 1 PublicationVSP_032935Add
    BLAST
    Alternative sequencei527 – 5271V → VRRSLEEKKMLEEERNRILT KQKQRMKELQKLLTTRAKAY DSHQSLAQISKSRVKCL in isoform 3. 1 PublicationVSP_039126

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006712177.1. XM_006712114.1. [Q3B820-2]
    UniGeneiHs.440466.

    Genome annotation databases

    EnsembliENST00000404929; ENSP00000385158; ENSG00000170264. [Q3B820-3]
    ENST00000405894; ENSP00000385893; ENSG00000170264. [Q3B820-1]
    GeneIDi84140.
    KEGGihsa:84140.
    UCSCiuc002sbm.4. human. [Q3B820-3]
    uc002sbn.4. human. [Q3B820-1]

    Polymorphism databases

    DMDMi182705173.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006712177.1. XM_006712114.1. [Q3B820-2 ]
    UniGenei Hs.440466.

    3D structure databases

    ProteinModelPortali Q3B820.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123909. 2 interactions.
    IntActi Q3B820. 1 interaction.
    STRINGi 9606.ENSP00000385893.

    PTM databases

    PhosphoSitei Q3B820.

    Polymorphism databases

    DMDMi 182705173.

    Proteomic databases

    MaxQBi Q3B820.
    PaxDbi Q3B820.
    PRIDEi Q3B820.

    Protocols and materials databases

    DNASUi 84140.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000404929 ; ENSP00000385158 ; ENSG00000170264 . [Q3B820-3 ]
    ENST00000405894 ; ENSP00000385893 ; ENSG00000170264 . [Q3B820-1 ]
    GeneIDi 84140.
    KEGGi hsa:84140.
    UCSCi uc002sbm.4. human. [Q3B820-3 ]
    uc002sbn.4. human. [Q3B820-1 ]

    Organism-specific databases

    CTDi 84140.
    GeneCardsi GC02M062051.
    GeneReviewsi FAM161A.
    H-InvDB HIX0002084.
    HGNCi HGNC:25808. FAM161A.
    HPAi HPA032119.
    MIMi 606068. phenotype.
    613596. gene.
    neXtProti NX_Q3B820.
    Orphaneti 791. Retinitis pigmentosa.
    PharmGKBi PA162386876.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG80167.
    HOGENOMi HOG000049209.
    HOVERGENi HBG107870.
    KOi K16772.
    OMAi AEKHYSN.
    PhylomeDBi Q3B820.
    TreeFami TF321199.

    Miscellaneous databases

    GenomeRNAii 84140.
    NextBioi 73449.
    PROi Q3B820.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q3B820.
    Bgeei Q3B820.
    CleanExi HS_FAM161A.
    Genevestigatori Q3B820.

    Family and domain databases

    InterProi IPR019579. UPF0564.
    [Graphical view ]
    Pfami PF10595. UPF0564. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT MET-107.
      Tissue: Colon endothelium and Retina.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-545 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 123-660 (ISOFORMS 1/2).
      Tissue: Ovary and Thalamus.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-660 (ISOFORM 1).
    5. Cited for: INVOLVEMENT IN RP28, TISSUE SPECIFICITY.
    6. "Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa."
      Bandah-Rozenfeld D., Mizrahi-Meissonnier L., Farhy C., Obolensky A., Chowers I., Pe'er J., Merin S., Ben-Yosef T., Ashery-Padan R., Banin E., Sharon D.
      Am. J. Hum. Genet. 87:382-391(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RP28, TISSUE SPECIFICITY.
    7. "FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies."
      Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.
      Hum. Mol. Genet. 21:5174-5184(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH LCA5; CEP290 AND SDCCAG8.
    8. "The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association."
      Zach F., Grassmann F., Langmann T., Sorusch N., Wolfrum U., Stohr H.
      Hum. Mol. Genet. 21:4573-4586(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MICROTUBULES AND FAM161B.

    Entry informationi

    Entry nameiF161A_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 74 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    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

    External Data

    Dasty 3