Uncharacterized protein KIAA1377 - Homo sapiens (Human)

Preferred order of sections

Names and origin

Protein names

Recommended name:
Uncharacterized protein KIAA1377

Gene names

Name:

KIAA1377

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1117 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity

Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary. Ref.2

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Binary interactions

With	Entry	#Exp.	IntAct
BARD1	Q99728	2	EBI-473176,EBI-473181
FEZ1	Q99689	2	EBI-473176,EBI-396435
GADD45G	O95257	2	EBI-473176,EBI-448202
GIT1	Q9Y2X7	2	EBI-473176,EBI-466061
HTT	P42858	2	EBI-473176,EBI-466029
KAT5	Q92993	2	EBI-473176,EBI-399080
KAT7	O95251	2	EBI-473176,EBI-473199

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1117

1117

Uncharacterized protein KIAA1377

PRO_0000248831

Regions

Coiled coil

49 – 121

73

Potential

Natural variations

Natural variant

178

1

A → T.
Corresponds to variant rs11225086 [ dbSNP | Ensembl ].

VAR_027363

Natural variant

238

1

G → C. Ref.1 Ref.2
Corresponds to variant rs7926728 [ dbSNP | Ensembl ].

VAR_027364

Natural variant

275

1

S → Y.
Corresponds to variant rs11225089 [ dbSNP | Ensembl ].

VAR_027365

Natural variant

281

1

I → T.
Corresponds to variant rs11225090 [ dbSNP | Ensembl ].

VAR_027366

Natural variant

302

1

A → T.
Corresponds to variant rs11225091 [ dbSNP | Ensembl ].

VAR_027367

Natural variant

668

1

G → S May be associated with susceptibility to monomelic amyotrophy. Ref.3
Corresponds to variant rs76022391 [ dbSNP | Ensembl ].

VAR_068173

Natural variant

710

1

P → S.
Corresponds to variant rs7109614 [ dbSNP | Ensembl ].

VAR_027368

Natural variant

1021

1

M → T.
Corresponds to variant rs7111429 [ dbSNP | Ensembl ].

VAR_027369

Natural variant

1077

1

S → N. Ref.1 Ref.2
Corresponds to variant rs6590942 [ dbSNP | Ensembl ].

VAR_027370

Sequences

Sequence

Length

Mass (Da)

Tools

Q9P2H0 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: EF181D0177691D00
Show »

FASTA

1,117

125,870

        10         20         30         40         50         60 
MLAGRPGTRS AVGELGTESS DNLDRAPLGP RESGGHHRPG SYLDMKIHLE KNLEEERQIL 

        70         80         90        100        110        120 
LQQQKICRNR ARKYFVESNR RKKAFEEKRK EQEEKEHQIR EQILQQRKQK FEEVTEKFQR 

       130        140        150        160        170        180 
AHVPLSQRRK AVSRKPVPPL EEALKQIQES NLKSEVNLPF SRRPTINWRA IDSALPSALS 

       190        200        210        220        230        240 
KNDHKHQKQL LSKINCEKEM NENMRATLAT SKNVFQLKLE ETQKLLEDQH LSNLQKFGDE 

       250        260        270        280        290        300 
VNQITNSETL SSIDSLEATE HEEIYLTLNK EHSTSIQRNT ISLKPANMQS TNLSCFDEDK 

       310        320        330        340        350        360 
LAFSKTQHIN NWLTNLDASN TQNVTAFSDI LSKSNVLPSW EYFNSKEQNP SPLNGTVERA 

       370        380        390        400        410        420 
TNTANNSVPF VSSPPMFVLD KKCEKTSETS TMRTTDSTSG AFKRERPLVT ESPTFKFSKS 

       430        440        450        460        470        480 
QSTSDSLTQE VATFPDQEKY SELNQENGTT SIPTSCVPVA TPLVLPSNIQ SARPSAKNSI 

       490        500        510        520        530        540 
HIKEIDAVQC SDKLDELKDG KEEEIKYFNC NKEELPLFSD SFQDAYIPHN PDSKDEKQKL 

       550        560        570        580        590        600 
AETSSLSNVT SNYDFVGQHK KMKYNIHERN GVRFLKSILK KESKYEHGYL KALIINQSFK 

       610        620        630        640        650        660 
FGNQKAAAIR DSIELTKEKG AEIPKTIKKL RWFDETSNIE NNAENSHSLK NKTGTTQQHS 

       670        680        690        700        710        720 
QQFHIQSGAG SNIISVSTCA VNSADTKKSR EDSISENVTT LGGSGADHMP LNCFIPSGYN 

       730        740        750        760        770        780 
FAKHAWPASK KEESKIPVHD DSKTKQGKPQ RGRAKIIRKP GSAKVQSGFI CTNRKGAVIQ 

       790        800        810        820        830        840 
PQSASKVNIF TQAQGKLIIP CPPPQSTSNI RSGKNIQVSQ CQPVTPENPQ NIITHNSFNS 

       850        860        870        880        890        900 
KHVLPTEHSL NQWNQESSSP LSNACSDLVT VIPSLPSYCS SECQTFAKIN HSNGTQAVAR 

       910        920        930        940        950        960 
QDATLYCTQR SPVCEESYPS VTLRTAEEES VPLWKRGPNV LHQNKRATGS TVMRRKRIAE 

       970        980        990       1000       1010       1020 
TKRRNILEQK RQNPGSVGQK YSEQINNFGQ SVLLSSSEPK QTTRGTSYIE EVSDSTSEFL 

      1030       1040       1050       1060       1070       1080 
MAENLVKASV PEDEILTVLN SKQIQKSNLP LNKTQQFNIC TLSAEEQKIL ESLNDLSERL 

      1090       1100       1110 
HYIQESICKN PSIKNTLQII PLLEKREDRT SSCRDKR

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS CYS-238 AND ASN-1077.
[2]	"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 130-1117, TISSUE SPECIFICITY, VARIANTS CYS-238 AND ASN-1077. Tissue: Brain.
[3]	"Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy." Lim Y.M., Koh I., Park Y.M., Kim J.J., Kim D.S., Kim H.J., Baik K.H., Choi H.Y., Yang G.S., Also-Rallo E., Tizzano E.F., Gamez J., Park K., Yoo H.W., Lee J.K., Kim K.K. Neuromuscul. Disord. 22:394-400(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-668.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AP003383 Genomic DNA. No translation available. AB037798 mRNA. Translation: BAA92615.1.
IPI	IPI00159494.
RefSeq	NP_065853.2. NM_020802.2.
UniGene	Hs.156352.
3D structure databases
ProteinModelPortal	Q9P2H0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9P2H0. 80 interactions.
MINT	MINT-1425828.
STRING	9606.ENSP00000263468.
PTM databases
PhosphoSite	Q9P2H0.
Polymorphism databases
DMDM	296439319.
Proteomic databases
PaxDb	Q9P2H0.
PRIDE	Q9P2H0.
Protocols and materials databases
DNASU	57562.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000263468; ENSP00000263468; ENSG00000110318.
GeneID	57562.
KEGG	hsa:57562.
UCSC	uc001pgm.3. human.
Organism-specific databases
CTD	57562.
GeneCards	GC11P101819.
HGNC	HGNC:29264. KIAA1377.
HPA	HPA038381. HPA038399.
MIM	614634. gene.
neXtProt	NX_Q9P2H0.
PharmGKB	PA143485517.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG84728.
HOGENOM	HOG000113165.
HOVERGEN	HBG081836.
InParanoid	Q9P2H0.
OrthoDB	EOG415GCM.
Gene expression databases
ArrayExpress	Q9P2H0.
Bgee	Q9P2H0.
CleanEx	HS_KIAA1377.
Genevestigator	Q9P2H0.
GermOnline	ENSG00000110318. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	57562.
NextBio	64066.
SOURCE	Search...

Entry information

Entry name

K1377_HUMAN

Accession

Primary (citable) accession number: Q9P2H0
Secondary accession number(s): Q4G0U6

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 5, 2006
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 72 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.

Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents