Reviewed, UniProtKB/Swiss-Prot A6NNP5 (CM038_HUMAN)

Names and origin

Protein names

Recommended name:
    UPF0594 protein C13orf38

Gene names

Name:

C13orf38

Organism

Homo sapiens (Human) [Complete 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	217 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Inferred from homology.

General annotation (Comments)

Sequence similarities	Belongs to the UPF0594 family.
Sequence caution	The sequence CAC17477.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAC17478.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: A6NNP5-1)

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: A6NNP5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     106-115: ESLNTLLKQL → VSRNVIKHKE
     116-217: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 217	217	UPF0594 protein C13orf38		PRO_0000341366
Regions
	Coiled coil	29 – 154	126	Potential
Natural variations
	Alternative sequence	106 – 115	10	ESLNTLLKQL → VSRNVIKHKE in isoform 2.		VSP_035636
	Alternative sequence	116 – 217	102	Missing in isoform 2.		VSP_035637
	Natural variant	120	1	K → R: dbSNP rs9546897.		VAR_057811

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 10, 2008. Version 3. Checksum: 6B83063FE03CB781	FASTA	217	25,581
	10 20 30 40 50 60 MKEERNYNFD GVSTNRLKQQ LLEEVRKKDA VQLSIFELRH KITELEAKLN TDNEGSEWKT 70 80 90 100 110 120 RYETQLELND ELEKQIVYLK EKVEKIHGNS SDRLSSIRVY ERMPVESLNT LLKQLEEEKK 130 140 150 160 170 180 TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL HQVSKRQQVD QLPRMQENLV 190 200 210 KTVKTGRYNP AKQKTVSAKR GPVKKITRPN HLPELHP
	Isoform 2. Checksum: 02238FB20BEA8F4F	FASTA	115	13,763
	10 20 30 40 50 60 MKEERNYNFD GVSTNRLKQQ LLEEVRKKDA VQLSIFELRH KITELEAKLN TDNEGSEWKT 70 80 90 100 110 RYETQLELND ELEKQIVYLK EKVEKIHGNS SDRLSSIRVY ERMPVVSRNV IKHKE

References

[1]

"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBLGenBankDDBJ	AL139377 Genomic DNA. Translation: CAC17477.1. Sequence problems. AL139377 Genomic DNA. Translation: CAC17478.1. Sequence problems.
IPI	IPI00402448. IPI00418385.
RefSeq	NP_001138454.1. NP_001138455.1. NP_001138457.1. NP_001138458.1.
UniGene	Hs.646618
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENST00000421681; ENSP00000407558; ENSG00000242715; Homo sapiens. [Genome view]
GeneID	728591.
UCSC	uc010abm.1. human.
Organism-specific databases
CTD	728591.
GeneCards	GC13M035701.
HGNC	HGNC:34361. C13orf38.
GenAtlas	Search...
Gene expression databases
Bgee	A6NNP5.
Genevestigator	A6NNP5.
Family and domain databases
InterPro	IPR014885. VASP_tetra. [Graphical view]
Pfam	PF08776. VASP_tetra. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

CM038_HUMAN

Accession

Primary (citable) accession number: A6NNP5
Secondary accession number(s): A6NC13 , A6NCT2, Q9H1T4, Q9H1T5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 10, 2008
Last sequence update:	June 10, 2008
Last modified:	November 24, 2009
This is version 18 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.