Q8IZS5 (OFCC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Orofacial cleft 1 candidate gene 1 protein

Alternative name(s):
Orofacial clefting chromosomal breakpoint region candidate 1 protein

Gene names

Name:	OFCC1
Synonyms:	MRDS1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	231 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Involvement in disease

Note=A chromosomal aberration involving OFCC1 is found in patients with orofacial cleft.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8IZS5-1)

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.

Isoform 2 (identifier: Q8IZS5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MWITSLITMKDEDIFDLAGDPQDSLIPGPSPTPKQNPVCNEAFFGHQTFSLRETGLKSVHCQGQEAENM
     115-137: Missing.

Isoform 3 (identifier: Q8IZS5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     115-231: DDDRIFYNRL...SRRYYREQRF → GSIPKKIGPC...EELEEHRFSV

Isoform 4 (identifier: Q8IZS5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     115-231: DDDRIFYNRL...SRRYYREQRF → AF

Isoform 5 (identifier: Q8IZS5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     115-231: DDDRIFYNRL...SRRYYREQRF → GFEIRRGRPQRIHSYVTFKDW

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 231	231	Orofacial cleft 1 candidate gene 1 protein		PRO_0000337138
Natural variations
	Alternative sequence	1	1	M → MWITSLITMKDEDIFDLAGD PQDSLIPGPSPTPKQNPVCN EAFFGHQTFSLRETGLKSVH CQGQEAENM in isoform 2.		VSP_033937
	Alternative sequence	115 – 231	117	DDDRI…REQRF → GSIPKKIGPCSMDYDPNLLE EDDELHSQGDSLTDHSVKGK STVWRIGEAEDYSQDISYLE ELEEHRFSV in isoform 3.		VSP_033938
	Alternative sequence	115 – 231	117	DDDRI…REQRF → AF in isoform 4.		VSP_033939
	Alternative sequence	115 – 231	117	DDDRI…REQRF → GFEIRRGRPQRIHSYVTFKD W in isoform 5.		VSP_033940
	Alternative sequence	115 – 137	23	Missing in isoform 2.		VSP_033941
	Natural variant	21	1	S → L. Corresponds to variant rs9477310 [ dbSNP | Ensembl ].		VAR_043621
	Natural variant	123	1	R → Q. Corresponds to variant rs9383206 [ dbSNP | Ensembl ].		VAR_043622
	Natural variant	145	1	T → I. Corresponds to variant rs9477211 [ dbSNP | Ensembl ].		VAR_043623
Experimental info
	Sequence conflict	178	1	S → SP in AAN06680. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: DC56B4924B0C13C6	FASTA	231	26,754
	10 20 30 40 50 60 MEREKFQQKA LKQTKQKKSK SAEFLMVKED REATEGTGNP AFNMSSPDLS ACQTAEKKVI 70 80 90 100 110 120 RHDMPDRTLA AHQQKFRLPA SAEPKGNEYG RNYFDPLMDE EINPRQCATE VSREDDDRIF 130 140 150 160 170 180 YNRLTKLFDE SRQGEPQDES GREETLNSEA PGSSNKSHEI HKEASEATTA HLEEFQRSQK 190 200 210 220 230 TIILLGSSPL EQEIRSTSLH CMEDEMSHPW ILLLKVTAVI RSRRYYREQR F
	Isoform 2 [UniParc]. Checksum: DBE6A2743A536E5B	FASTA	276	31,430
	10 20 30 40 50 60 MWITSLITMK DEDIFDLAGD PQDSLIPGPS PTPKQNPVCN EAFFGHQTFS LRETGLKSVH 70 80 90 100 110 120 CQGQEAENME REKFQQKALK QTKQKKSKSA EFLMVKEDRE ATEGTGNPAF NMSSPDLSAC 130 140 150 160 170 180 QTAEKKVIRH DMPDRTLAAH QQKFRLPASA EPKGNEYGRN YFDPLMDEEI NPRQCATEVS 190 200 210 220 230 240 REDESGREET LNSEAPGSSN KSHEIHKEAS EATTAHLEEF QRSQKTIILL GSSPLEQEIR 250 260 270 STSLHCMEDE MSHPWILLLK VTAVIRSRRY YREQRF
	Isoform 3 [UniParc]. Checksum: 0334CBBF25D11B6D	FASTA	183	20,887
	10 20 30 40 50 60 MEREKFQQKA LKQTKQKKSK SAEFLMVKED REATEGTGNP AFNMSSPDLS ACQTAEKKVI 70 80 90 100 110 120 RHDMPDRTLA AHQQKFRLPA SAEPKGNEYG RNYFDPLMDE EINPRQCATE VSREGSIPKK 130 140 150 160 170 180 IGPCSMDYDP NLLEEDDELH SQGDSLTDHS VKGKSTVWRI GEAEDYSQDI SYLEELEEHR FSV
	Isoform 4 [UniParc]. Checksum: 5F38D3879B026F86	FASTA	116	13,296
	10 20 30 40 50 60 MEREKFQQKA LKQTKQKKSK SAEFLMVKED REATEGTGNP AFNMSSPDLS ACQTAEKKVI 70 80 90 100 110 RHDMPDRTLA AHQQKFRLPA SAEPKGNEYG RNYFDPLMDE EINPRQCATE VSREAF
	Isoform 5 [UniParc]. Checksum: 08ECE5878002CD7D	FASTA	135	15,709
	10 20 30 40 50 60 MEREKFQQKA LKQTKQKKSK SAEFLMVKED REATEGTGNP AFNMSSPDLS ACQTAEKKVI 70 80 90 100 110 120 RHDMPDRTLA AHQQKFRLPA SAEPKGNEYG RNYFDPLMDE EINPRQCATE VSREGFEIRR 130 GRPQRIHSYV TFKDW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning, sequencing, and characterization of a novel 500 kilobase gene (MRDS1) from 6p24, a Schizophrenia candidate region." Matsumoto M., Weinberger D.R., Straub R.E. Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), NUCLEOTIDE SEQUENCE [MRNA] OF 12-231 (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 14-231 (ISOFORM 5). Tissue: Brain, Hippocampus and Placenta.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region." Davies S.J., Wise C., Venkatesh B., Mirza G., Jefferson A., Volpi E.V., Ragoussis J. Cytogenet. Genome Res. 105:47-53(2004) [PubMed: 15218257] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-162 (ISOFORMS 1 AND 2), CHROMOSOMAL REARRANGEMENT. Tissue: Placenta.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF520800 mRNA. Translation: AAN06675.1. AF520803 mRNA. Translation: AAN06678.1. AF520805 mRNA. Translation: AAN06680.1. AF520806 mRNA. Translation: AAN06681.1. AF520808 mRNA. Translation: AAN06683.1. CH471087 Genomic DNA. Translation: EAW55244.1. BC113541 mRNA. Translation: AAI13542.1. BC113543 mRNA. Translation: AAI13544.1. AF548113 mRNA. Translation: AAN59915.1. AY309094 mRNA. Translation: AAP74970.1.
IPI	IPI00186621. IPI00218059. IPI00333208. IPI00478152. IPI00893262.
UniGene	Hs.532138.
3D structure databases
ProteinModelPortal	Q8IZS5.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8IZS5.
Polymorphism databases
DMDM	74750797.
Proteomic databases
PRIDE	Q8IZS5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000331403; ENSP00000327601; ENSG00000181355.
UCSC	uc003myj.1. human. uc003myn.1. human. uc010joi.1. human.
Organism-specific databases
GeneCards	GC06M009596.
H-InvDB	HIX0032805.
HGNC	HGNC:21017. OFCC1.
HPA	HPA035725.
MIM	614287. gene.
neXtProt	NX_Q8IZS5.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000004053.
HOVERGEN	HBG108211.
Gene expression databases
ArrayExpress	Q8IZS5.
Bgee	Q8IZS5.
CleanEx	HS_OFCC1.
Genevestigator	Q8IZS5.
Family and domain databases
ProtoNet	Search...
Other
NextBio	93241.
SOURCE	Search...

Entry information

Entry name

OFCC1_HUMAN

Accession

Primary (citable) accession number: Q8IZS5
Secondary accession number(s): Q7Z2X5 , Q8IUL6, Q8IUM1, Q8IZR9, Q8IZS1, Q8IZS3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	March 1, 2003
Last modified:	January 25, 2012
This is version 57 of the entry and version 1 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.