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Q8N8V4 (ANS4B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ankyrin repeat and SAM domain-containing protein 4B
Alternative name(s):
Harmonin-interacting ankyrin repeat-containing protein
Short name=Harp
Gene names
Name:ANKS4B
Synonyms:HARP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length417 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subunit structure

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

Tissue specificity

Expressed in kidney and small intestine. Ref.4

Sequence similarities

Contains 3 ANK repeats.

Contains 1 SAM (sterile alpha motif) domain.

Sequence caution

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

Ontologies

Keywords
   DomainANK repeat
Coiled coil
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentplasma membrane

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 417417Ankyrin repeat and SAM domain-containing protein 4B
PRO_0000066996

Regions

Repeat31 – 6030ANK 1
Repeat64 – 9330ANK 2
Repeat97 – 12630ANK 3
Domain351 – 40353SAM
Coiled coil130 – 16435 Potential
Motif415 – 4173PDZ-binding By similarity

Sequences

Sequence LengthMass (Da)Tools
Q8N8V4 [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: 0B3D8382965DC82E

FASTA41746,597
        10         20         30         40         50         60 
MSTRYHQAAS DSYLELLKEA TKRDLNLSDE DGMTPTLLAA YHGNLEALEI ICSRGGDPDR 

        70         80         90        100        110        120 
CDIWGNTPLH FAASNGHAHC VSFLVNFGAN IFALDNDLQT PLDAAASREQ NECVALLDKA 

       130        140        150        160        170        180 
ATAQNIMNPK KVTRLKEQAQ KNARRQIKEC ERLQEKHQNK MAHTYSKEES GTLSSSKGTF 

       190        200        210        220        230        240 
SRSSPSNASA PGTFGSLSKG IKDTFKIKFK KNKDTAEQVG KEGRSGQRNV MEVFREEEED 

       250        260        270        280        290        300 
SFSGDFKEKL QLSAEEDGSV HHESILNRPG LGSIVFRRNR ISSPEDISDS KREFGFKLPS 

       310        320        330        340        350        360 
ELLQRQGASE ADEGAADEEG EENGLKDDLP WDDDEVEWEE DVVDATPLEV FLLSQHLEEF 

       370        380        390        400        410 
LPIFKREQID LEALLLCSDE DLQSIQMQLG PRKKVLNAIN RRKQVLQQPG QLVDTSL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK096138 mRNA. Translation: BAC04707.1. Sequence problems.
AF001550 Genomic DNA. No translation available.
BC111784 mRNA. No translation available.
RefSeqNP_665872.2. NM_145865.2.
UniGeneHs.115959.

3D structure databases

ProteinModelPortalQ8N8V4.
SMRQ8N8V4. Positions 3-178, 344-417.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129220. 1 interaction.
STRING9606.ENSP00000308772.

PTM databases

PhosphoSiteQ8N8V4.

Polymorphism databases

DMDM317373324.

Proteomic databases

PaxDbQ8N8V4.
PRIDEQ8N8V4.

Protocols and materials databases

DNASU257629.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311620; ENSP00000308772; ENSG00000175311.
GeneID257629.
KEGGhsa:257629.
UCSCuc010bwp.1. human.

Organism-specific databases

CTD257629.
GeneCardsGC16P021244.
HGNCHGNC:26795. ANKS4B.
HPAHPA043523.
MIM609901. gene.
neXtProtNX_Q8N8V4.
PharmGKBPA143485304.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
HOGENOMHOG000007847.
HOVERGENHBG051882.
InParanoidQ8N8V4.
OMANGHAHCV.
OrthoDBEOG70GMFR.
PhylomeDBQ8N8V4.
TreeFamTF324946.

Gene expression databases

BgeeQ8N8V4.
CleanExHS_ANKS4B.
GenevestigatorQ8N8V4.

Family and domain databases

Gene3D1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamPF12796. Ank_2. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTSM00248. ANK. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi257629.
NextBio93020.
PROQ8N8V4.
SOURCESearch...

Entry information

Entry nameANS4B_HUMAN
AccessionPrimary (citable) accession number: Q8N8V4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 9, 2004
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 96 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM