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Protein

KH homology domain-containing protein 1

Gene

KHDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
KH homology domain-containing protein 1
Gene namesi
Name:KHDC1
Synonyms:C6orf148
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21366. KHDC1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2923HelicalSequence analysisAdd
BLAST
Transmembranei33 – 5018HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162392802.

Polymorphism and mutation databases

BioMutaiKHDC1.
DMDMi74753931.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 237237KH homology domain-containing protein 1PRO_0000311358Add
BLAST

Proteomic databases

PaxDbiQ4VXA5.
PRIDEiQ4VXA5.

Expressioni

Gene expression databases

BgeeiQ4VXA5.
CleanExiHS_KHDC1.
ExpressionAtlasiQ4VXA5. baseline and differential.
GenevisibleiQ4VXA5. HS.

Organism-specific databases

HPAiHPA029032.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000257765.

Structurei

3D structure databases

ProteinModelPortaliQ4VXA5.
SMRiQ4VXA5. Positions 82-167.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini96 – 15560KH; atypicalAdd
BLAST

Sequence similaritiesi

Belongs to the KHDC1 family.Curated
Contains 1 KH domain.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J7N5. Eukaryota.
ENOG4111ED1. LUCA.
GeneTreeiENSGT00390000008575.
HOGENOMiHOG000037926.
HOVERGENiHBG056258.
InParanoidiQ4VXA5.
OMAiHHARGLE.
OrthoDBiEOG7T7GVB.
PhylomeDBiQ4VXA5.
TreeFamiTF337964.

Family and domain databases

InterProiIPR031952. MOEP19_KH-like.
[Graphical view]
PfamiPF16005. MOEP19. 1 hit.
[Graphical view]

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 BAB70824.1 differs from that shown.Cloning artifact.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti144 – 1441Missing in AAH22080 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7373Missing in isoform 2. 1 PublicationVSP_029543Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054891 mRNA. Translation: BAB70824.1. Sequence problems.
AL365232 Genomic DNA. Translation: CAI39831.1.
AL365232 Genomic DNA. Translation: CAI95051.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054891 mRNA. Translation: BAB70824.1. Sequence problems.
AL365232 Genomic DNA. Translation: CAI39831.1.
AL365232 Genomic DNA. Translation: CAI95051.1.
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.

3D structure databases

ProteinModelPortaliQ4VXA5.
SMRiQ4VXA5. Positions 82-167.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000257765.

Polymorphism and mutation databases

BioMutaiKHDC1.
DMDMi74753931.

Proteomic databases

PaxDbiQ4VXA5.
PRIDEiQ4VXA5.

Protocols and materials databases

DNASUi80759.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi80759.
GeneCardsiKHDC1.
H-InvDBHIX0023311.
HIX0025243.
HGNCiHGNC:21366. KHDC1.
HPAiHPA029032.
MIMi611688. gene.
neXtProtiNX_Q4VXA5.
PharmGKBiPA162392802.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J7N5. Eukaryota.
ENOG4111ED1. LUCA.
GeneTreeiENSGT00390000008575.
HOGENOMiHOG000037926.
HOVERGENiHBG056258.
InParanoidiQ4VXA5.
OMAiHHARGLE.
OrthoDBiEOG7T7GVB.
PhylomeDBiQ4VXA5.
TreeFamiTF337964.

Miscellaneous databases

ChiTaRSiKHDC1. human.
GenomeRNAii80759.
PROiQ4VXA5.
SOURCEiSearch...

Gene expression databases

BgeeiQ4VXA5.
CleanExiHS_KHDC1.
ExpressionAtlasiQ4VXA5. baseline and differential.
GenevisibleiQ4VXA5. HS.

Family and domain databases

InterProiIPR031952. MOEP19_KH-like.
[Graphical view]
PfamiPF16005. MOEP19. 1 hit.
[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: Cerebellum.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORM 2).
    Tissue: Brain and Ovary.
  5. "Atypical structure and phylogenomic evolution of the new eutherian oocyte-and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family."
    Pierre A., Gautier M., Callebaut I., Bontoux M., Jeanpierre E., Pontarotti P., Monget P.
    Genomics 90:583-594(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.

Entry informationi

Entry nameiKHDC1_HUMAN
AccessioniPrimary (citable) accession number: Q4VXA5
Secondary accession number(s): Q5JSQ7, Q8WTV2, Q96NQ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: July 5, 2005
Last modified: June 8, 2016
This is version 80 of the entry and version 1 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 6
    Human chromosome 6: 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.