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Protein

Ankyrin repeat and SAM domain-containing protein 4B

Gene

ANKS4B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular response to endoplasmic reticulum stress (By similarity).By similarity1 Publication

GO - Biological processi

  • brush border assembly Source: UniProtKB
  • cell differentiation Source: UniProtKB-KW
  • cellular protein-containing complex assembly Source: UniProtKB
  • protein localization to microvillus Source: UniProtKB
  • response to endoplasmic reticulum stress Source: UniProtKB

Keywordsi

Biological processDifferentiation

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and SAM domain-containing protein 4BCurated
Alternative name(s):
Harmonin-interacting ankyrin repeat-containing protein1 Publication
Short name:
Harp1 Publication
Gene namesi
Name:ANKS4BImported
Synonyms:HARP1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000175311.6
HGNCiHGNC:26795 ANKS4B
MIMi609901 gene
neXtProtiNX_Q8N8V4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi48L → P: Decreased localization to microvilli. 1 Publication1
Mutagenesisi417L → R: Decreased interaction with USH1C. 1 Publication1

Organism-specific databases

DisGeNETi257629
OpenTargetsiENSG00000175311
PharmGKBiPA143485304

Polymorphism and mutation databases

BioMutaiANKS4B
DMDMi317373324

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000669961 – 417Ankyrin repeat and SAM domain-containing protein 4BAdd BLAST417

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei283PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8N8V4
PaxDbiQ8N8V4
PeptideAtlasiQ8N8V4
PRIDEiQ8N8V4
ProteomicsDBi72464

PTM databases

iPTMnetiQ8N8V4
PhosphoSitePlusiQ8N8V4

Expressioni

Tissue specificityi

Expressed in kidney and small intestine.1 Publication

Gene expression databases

BgeeiENSG00000175311
CleanExiHS_ANKS4B
GenevisibleiQ8N8V4 HS

Organism-specific databases

HPAiHPA043523

Interactioni

Subunit structurei

Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5 (PubMed:26812018). Interacts with USH1C; the interaction is direct and is required for ANKS4B localization to the tip of microvilli (PubMed:26812017, PubMed:26812018). Interacts with MYO7B; the interaction is direct (PubMed:26812018). May interact with HSPA5 (By similarity).By similarity2 Publications

Protein-protein interaction databases

BioGridi129220, 2 interactors
IntActiQ8N8V4, 2 interactors
STRINGi9606.ENSP00000308772

Structurei

3D structure databases

ProteinModelPortaliQ8N8V4
SMRiQ8N8V4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati31 – 60ANK 1Add BLAST30
Repeati64 – 93ANK 2Add BLAST30
Repeati97 – 126ANK 3Add BLAST30
Domaini351 – 403SAMAdd BLAST53

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 252Mediates localization to microvilli1 PublicationAdd BLAST252
Regioni253 – 346Mediates interaction with MYO7B1 PublicationAdd BLAST94

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili130 – 164Sequence analysisAdd BLAST35

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi415 – 417PDZ-binding; mediates interaction with USH1C1 Publication3

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00390000017548
HOGENOMiHOG000007847
HOVERGENiHBG051882
InParanoidiQ8N8V4
KOiK21414
OMAiNGHAHCV
OrthoDBiEOG091G0DIP
PhylomeDBiQ8N8V4
TreeFamiTF324946

Family and domain databases

CDDicd00204 ANK, 1 hit
cd09587 SAM_HARP, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR037601 ANKS4B_SAM
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF00536 SAM_1, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 3 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits

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 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
ENST00000639229; ENSP00000491748; ENSG00000284290
GeneIDi257629
KEGGihsa:257629
UCSCiuc010bwp.2 human

Similar proteinsi

Entry informationi

Entry nameiANS4B_HUMAN
AccessioniPrimary (citable) accession number: Q8N8V4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 9, 2004
Last sequence update: January 11, 2011
Last modified: June 20, 2018
This is version 129 of the entry and version 2 of the sequence. See 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

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