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Protein

Ankyrin repeat and SAM domain-containing protein 4B

Gene

ANKS4B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  1. response to endoplasmic reticulum stress Source: Ensembl
Complete GO annotation...

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. endoplasmic reticulum membrane Source: Ensembl
  2. 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 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.
GeneTreeiENSGT00390000017548.
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

        10         20         30         40         50
MSTRYHQAAS DSYLELLKEA TKRDLNLSDE DGMTPTLLAA YHGNLEALEI
60 70 80 90 100
ICSRGGDPDR CDIWGNTPLH FAASNGHAHC VSFLVNFGAN IFALDNDLQT
110 120 130 140 150
PLDAAASREQ NECVALLDKA ATAQNIMNPK KVTRLKEQAQ KNARRQIKEC
160 170 180 190 200
ERLQEKHQNK MAHTYSKEES GTLSSSKGTF SRSSPSNASA PGTFGSLSKG
210 220 230 240 250
IKDTFKIKFK KNKDTAEQVG KEGRSGQRNV MEVFREEEED SFSGDFKEKL
260 270 280 290 300
QLSAEEDGSV HHESILNRPG LGSIVFRRNR ISSPEDISDS KREFGFKLPS
310 320 330 340 350
ELLQRQGASE ADEGAADEEG EENGLKDDLP WDDDEVEWEE DVVDATPLEV
360 370 380 390 400
FLLSQHLEEF LPIFKREQID LEALLLCSDE DLQSIQMQLG PRKKVLNAIN
410
RRKQVLQQPG QLVDTSL
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.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ8N8V4.

Polymorphism databases

DMDMi317373324.

Proteomic databases

MaxQBiQ8N8V4.
PaxDbiQ8N8V4.
PRIDEiQ8N8V4.

Protocols and materials databases

DNASUi257629.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi257629.
GeneCardsiGC16P021244.
HGNCiHGNC:26795. ANKS4B.
HPAiHPA043523.
MIMi609901. gene.
neXtProtiNX_Q8N8V4.
PharmGKBiPA143485304.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0666.
GeneTreeiENSGT00390000017548.
HOGENOMiHOG000007847.
HOVERGENiHBG051882.
InParanoidiQ8N8V4.
OMAiNGHAHCV.
OrthoDBiEOG70GMFR.
PhylomeDBiQ8N8V4.
TreeFamiTF324946.

Miscellaneous databases

GenomeRNAii257629.
NextBioi93020.
PROiQ8N8V4.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N8V4.
CleanExiHS_ANKS4B.
GenevestigatoriQ8N8V4.

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]
ProtoNetiSearch...

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: January 7, 2015
This is version 101 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.