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Q8N8V4

- ANS4B_HUMAN

UniProt

Q8N8V4 - ANS4B_HUMAN

Protein

Ankyrin repeat and SAM domain-containing protein 4B

Gene

ANKS4B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ankyrin repeat and SAM domain-containing protein 4B
    Alternative name(s):
    Harmonin-interacting ankyrin repeat-containing protein
    Short name:
    Harp
    Gene namesi
    Name:ANKS4B
    Synonyms:HARP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:26795. ANKS4B.

    Subcellular locationi

    GO - Cellular componenti

    1. plasma membrane Source: Ensembl

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485304.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 417417Ankyrin repeat and SAM domain-containing protein 4BPRO_0000066996Add
    BLAST

    Proteomic databases

    MaxQBiQ8N8V4.
    PaxDbiQ8N8V4.
    PRIDEiQ8N8V4.

    PTM databases

    PhosphoSiteiQ8N8V4.

    Expressioni

    Tissue specificityi

    Expressed in kidney and small intestine.1 Publication

    Gene expression databases

    BgeeiQ8N8V4.
    CleanExiHS_ANKS4B.
    GenevestigatoriQ8N8V4.

    Organism-specific databases

    HPAiHPA043523.

    Interactioni

    Subunit structurei

    Interacts through its C-terminus with USH1C PDZ 1 domain.By similarity

    Protein-protein interaction databases

    BioGridi129220. 1 interaction.
    IntActiQ8N8V4. 1 interaction.
    STRINGi9606.ENSP00000308772.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N8V4.
    SMRiQ8N8V4. Positions 3-178, 344-417.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati31 – 6030ANK 1Add
    BLAST
    Repeati64 – 9330ANK 2Add
    BLAST
    Repeati97 – 12630ANK 3Add
    BLAST
    Domaini351 – 40353SAMAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili130 – 16435Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi415 – 4173PDZ-bindingBy similarity

    Sequence similaritiesi

    Contains 3 ANK repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOGENOMiHOG000007847.
    HOVERGENiHBG051882.
    InParanoidiQ8N8V4.
    OMAiNGHAHCV.
    OrthoDBiEOG70GMFR.
    PhylomeDBiQ8N8V4.
    TreeFamiTF324946.

    Family and domain databases

    Gene3Di1.10.150.50. 1 hit.
    1.25.40.20. 1 hit.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    [Graphical view]
    PfamiPF12796. Ank_2. 1 hit.
    PF00536. SAM_1. 1 hit.
    [Graphical view]
    SMARTiSM00248. ANK. 3 hits.
    SM00454. SAM. 1 hit.
    [Graphical view]
    SUPFAMiSSF47769. SSF47769. 1 hit.
    SSF48403. SSF48403. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8N8V4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSTRYHQAAS DSYLELLKEA TKRDLNLSDE DGMTPTLLAA YHGNLEALEI    50
    ICSRGGDPDR CDIWGNTPLH FAASNGHAHC VSFLVNFGAN IFALDNDLQT 100
    PLDAAASREQ NECVALLDKA ATAQNIMNPK KVTRLKEQAQ KNARRQIKEC 150
    ERLQEKHQNK MAHTYSKEES GTLSSSKGTF SRSSPSNASA PGTFGSLSKG 200
    IKDTFKIKFK KNKDTAEQVG KEGRSGQRNV MEVFREEEED SFSGDFKEKL 250
    QLSAEEDGSV HHESILNRPG LGSIVFRRNR ISSPEDISDS KREFGFKLPS 300
    ELLQRQGASE ADEGAADEEG EENGLKDDLP WDDDEVEWEE DVVDATPLEV 350
    FLLSQHLEEF LPIFKREQID LEALLLCSDE DLQSIQMQLG PRKKVLNAIN 400
    RRKQVLQQPG QLVDTSL 417
    Length:417
    Mass (Da):46,597
    Last modified:January 11, 2011 - v2
    Checksum:i0B3D8382965DC82E
    GO

    Sequence cautioni

    The sequence BAC04707.1 differs from that shown. Reason: Erroneous termination at position 418. Translated as stop.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096138 mRNA. Translation: BAC04707.1. Sequence problems.
    AF001550 Genomic DNA. No translation available.
    BC111784 mRNA. No translation available.
    CCDSiCCDS42130.1.
    RefSeqiNP_665872.2. NM_145865.2.
    UniGeneiHs.115959.

    Genome annotation databases

    EnsembliENST00000311620; ENSP00000308772; ENSG00000175311.
    GeneIDi257629.
    KEGGihsa:257629.
    UCSCiuc010bwp.1. human.

    Polymorphism databases

    DMDMi317373324.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096138 mRNA. Translation: BAC04707.1 . Sequence problems.
    AF001550 Genomic DNA. No translation available.
    BC111784 mRNA. No translation available.
    CCDSi CCDS42130.1.
    RefSeqi NP_665872.2. NM_145865.2.
    UniGenei Hs.115959.

    3D structure databases

    ProteinModelPortali Q8N8V4.
    SMRi Q8N8V4. Positions 3-178, 344-417.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129220. 1 interaction.
    IntActi Q8N8V4. 1 interaction.
    STRINGi 9606.ENSP00000308772.

    PTM databases

    PhosphoSitei Q8N8V4.

    Polymorphism databases

    DMDMi 317373324.

    Proteomic databases

    MaxQBi Q8N8V4.
    PaxDbi Q8N8V4.
    PRIDEi Q8N8V4.

    Protocols and materials databases

    DNASUi 257629.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311620 ; ENSP00000308772 ; ENSG00000175311 .
    GeneIDi 257629.
    KEGGi hsa:257629.
    UCSCi uc010bwp.1. human.

    Organism-specific databases

    CTDi 257629.
    GeneCardsi GC16P021244.
    HGNCi HGNC:26795. ANKS4B.
    HPAi HPA043523.
    MIMi 609901. gene.
    neXtProti NX_Q8N8V4.
    PharmGKBi PA143485304.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOGENOMi HOG000007847.
    HOVERGENi HBG051882.
    InParanoidi Q8N8V4.
    OMAi NGHAHCV.
    OrthoDBi EOG70GMFR.
    PhylomeDBi Q8N8V4.
    TreeFami TF324946.

    Miscellaneous databases

    GenomeRNAii 257629.
    NextBioi 93020.
    PROi Q8N8V4.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8N8V4.
    CleanExi HS_ANKS4B.
    Genevestigatori Q8N8V4.

    Family and domain databases

    Gene3Di 1.10.150.50. 1 hit.
    1.25.40.20. 1 hit.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    [Graphical view ]
    Pfami PF12796. Ank_2. 1 hit.
    PF00536. SAM_1. 1 hit.
    [Graphical view ]
    SMARTi SM00248. ANK. 3 hits.
    SM00454. SAM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47769. SSF47769. 1 hit.
    SSF48403. SSF48403. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
      Tissue: Liver.
    2. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
    4. "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin."
      Weil D., El-Amraoui A., Masmoudi S., Mustapha M., Kikkawa Y., Laine S., Delmaghani S., Adato A., Nadifi S., Zina Z.B., Hamel C., Gal A., Ayadi H., Yonekawa H., Petit C.
      Hum. Mol. Genet. 12:463-471(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiANS4B_HUMAN
    AccessioniPrimary (citable) accession number: Q8N8V4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 9, 2004
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 99 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 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3