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Q8N8V4

- ANS4B_HUMAN

UniProt

Q8N8V4 - ANS4B_HUMAN

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Protein
Ankyrin repeat and SAM domain-containing protein 4B
Gene
ANKS4B, HARP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

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
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485304.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 417417Ankyrin repeat and SAM domain-containing protein 4B
PRO_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.
STRINGi9606.ENSP00000308772.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili130 – 16435 Reviewed prediction
Add
BLAST

Motif

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

Sequence similaritiesi

Contains 3 ANK repeats.

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.
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 98 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

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