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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: 5 out of 5-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 complex assembly Source: UniProtKB
  • protein localization to microvillus Source: UniProtKB
  • response to endoplasmic reticulum stress Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Differentiation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175311-MONOMER.

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

HGNCiHGNC:26795. ANKS4B.

Subcellular locationi

  • Cell projectionmicrovillus 1 Publication

  • Note: Localizes at the tip of microvilli (PubMed:26812018). May associate with endoplasmic reticulum membranes (By similarity).By similarity1 Publication

GO - Cellular componenti

  • brush border Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB
  • microvillus Source: UniProtKB
  • plasma membrane Source: Ensembl
Complete GO annotation...

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.

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. 1 interactor.
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

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000017548.
HOGENOMiHOG000007847.
HOVERGENiHBG051882.
InParanoidiQ8N8V4.
OMAiNGHAHCV.
OrthoDBiEOG091G0DIP.
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.
[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 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.2. human.

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129220. 1 interactor.
IntActiQ8N8V4. 2 interactors.
STRINGi9606.ENSP00000308772.

PTM databases

iPTMnetiQ8N8V4.
PhosphoSitePlusiQ8N8V4.

Polymorphism and mutation databases

BioMutaiANKS4B.
DMDMi317373324.

Proteomic databases

MaxQBiQ8N8V4.
PaxDbiQ8N8V4.
PeptideAtlasiQ8N8V4.
PRIDEiQ8N8V4.

Protocols and materials databases

DNASUi257629.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311620; ENSP00000308772; ENSG00000175311.
GeneIDi257629.
KEGGihsa:257629.
UCSCiuc010bwp.2. human.

Organism-specific databases

CTDi257629.
DisGeNETi257629.
GeneCardsiANKS4B.
HGNCiHGNC:26795. ANKS4B.
HPAiHPA043523.
MIMi609901. gene.
neXtProtiNX_Q8N8V4.
OpenTargetsiENSG00000175311.
PharmGKBiPA143485304.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175311-MONOMER.

Miscellaneous databases

GenomeRNAii257629.
PROiQ8N8V4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175311.
CleanExiHS_ANKS4B.
GenevisibleiQ8N8V4. HS.

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.
[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...

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: November 30, 2016
This is version 117 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

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 one 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.