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Protein

KH homology domain-containing protein 1

Gene

KHDC1

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

Functioni

GO - Molecular functioni

Keywordsi

Molecular functionRNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
KH homology domain-containing protein 1
Gene namesi
Name:KHDC1Imported
Synonyms:C6orf147Imported, C6orf148Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000135314.12
HGNCiHGNC:21366 KHDC1
MIMi611688 gene
neXtProtiNX_Q4VXA5

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei7 – 29HelicalSequence analysisAdd BLAST23
Transmembranei33 – 50HelicalSequence analysisAdd BLAST18

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000135314
PharmGKBiPA162392802

Polymorphism and mutation databases

BioMutaiKHDC1
DMDMi74753931

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003113581 – 237KH homology domain-containing protein 1Add BLAST237

Proteomic databases

PaxDbiQ4VXA5
PeptideAtlasiQ4VXA5
PRIDEiQ4VXA5
ProteomicsDBi62323
62324 [Q4VXA5-2]

PTM databases

iPTMnetiQ4VXA5
PhosphoSitePlusiQ4VXA5

Expressioni

Gene expression databases

BgeeiENSG00000135314
CleanExiHS_KHDC1
ExpressionAtlasiQ4VXA5 baseline and differential
GenevisibleiQ4VXA5 HS

Organism-specific databases

HPAiHPA029032

Interactioni

Protein-protein interaction databases

BioGridi123293, 15 interactors
STRINGi9606.ENSP00000257765

Structurei

3D structure databases

ProteinModelPortaliQ4VXA5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini96 – 155KH; atypicalAdd BLAST60

Sequence similaritiesi

Belongs to the KHDC1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J7N5 Eukaryota
ENOG4111ED1 LUCA
GeneTreeiENSGT00390000008575
HOGENOMiHOG000037926
HOVERGENiHBG056258
InParanoidiQ4VXA5
OMAiHHARGLE
OrthoDBiEOG091G0ZT4
PhylomeDBiQ4VXA5
TreeFamiTF337964

Family and domain databases

CDDicd12795 FILIA_N_like, 1 hit
Gene3Di3.30.1370.10, 1 hit
InterProiView protein in InterPro
IPR036612 KH_dom_type_1_sf
IPR031952 MOEP19_KH-like
PfamiView protein in Pfam
PF16005 MOEP19, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4VXA5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLSAFQRLFR VLFVIETVSE YGVLIFIYGW PFLQTLAMLL IGTVSFHLWI
60 70 80 90 100
RRNRERNSRS GKTRCRSKRS EQSMDMGTSA LSKKPWWTLP QNFHAPMVFH
110 120 130 140 150
MEEDQEELIF GHGDTYLRCI EVHSHTLIQL ESWFTATGQT RVTVVGPHRA
160 170 180 190 200
RQWLLHMFCC VGSQDSYHHA RGLEMLERVR SQPLTNDDLV TSISVPPYTG
210 220 230
DLSLAPRISG TVCLSVPQPS PYQVIGCSGF HLSSLYP
Length:237
Mass (Da):27,160
Last modified:July 5, 2005 - v1
Checksum:i0339CBE4FAB1FA47
GO
Isoform 2 (identifier: Q4VXA5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:164
Mass (Da):18,480
Checksum:i2CB25D562D7E0FD2
GO

Sequence cautioni

The sequence BAB70824 differs from that shown. Cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti144Missing in AAH22080 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0295431 – 73Missing in isoform 2. 1 PublicationAdd BLAST73

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054891 mRNA Translation: BAB70824.1 Sequence problems.
AL365232 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48778.1
CH471051 Genomic DNA Translation: EAW48780.1
BC022080 mRNA Translation: AAH22080.1
BC035766 mRNA No translation available.
CCDSiCCDS43480.1 [Q4VXA5-2]
CCDS59027.1 [Q4VXA5-1]
RefSeqiNP_001238803.1, NM_001251874.1 [Q4VXA5-1]
NP_085045.3, NM_030568.4 [Q4VXA5-2]
UniGeneiHs.433062
Hs.732094

Genome annotation databases

EnsembliENST00000257765; ENSP00000257765; ENSG00000135314 [Q4VXA5-2]
ENST00000370384; ENSP00000359411; ENSG00000135314 [Q4VXA5-1]
ENST00000610435; ENSP00000479158; ENSG00000135314 [Q4VXA5-2]
GeneIDi80759
KEGGihsa:80759
UCSCiuc003pgn.5 human [Q4VXA5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiKHDC1_HUMAN
AccessioniPrimary (citable) accession number: Q4VXA5
Secondary accession number(s): Q5JSQ7, Q8WTV2, Q96NQ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: July 5, 2005
Last modified: June 20, 2018
This is version 92 of the entry and version 1 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

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