Reviewed, UniProtKB/Swiss-Prot Q9NQ60 (AFAF_HUMAN)

Names and origin

Protein names

Recommended name:
    Acrosome formation-associated factor

Gene names

Name:	AFAF
Synonyms:	C9orf11

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	294 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Involved in acrosome biogenesis By similarity.
Subcellular location	Cytoplasmic vesicle › secretory vesicle › acrosome membrane; Single-pass type I membrane protein By similarity.
Tissue specificity	Isoform 1 is highly expressed in testis. Isoform 2 is expressed at low levels in skin and blood.

Ontologies

Keywords
Cellular component	Cytoplasmic vesicle Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q9NQ60-1)

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: Q9NQ60-2)

The sequence of this isoform differs from the canonical sequence as follows:
     126-127: RS → SI
     128-294: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 14	14	Potential
	Chain	15 – 294	280	Acrosome formation-associated factor		PRO_0000286593
Regions
	Topological domain	15 – 181	167	Vesicular Potential
	Transmembrane	182 – 202	21	Potential
	Topological domain	203 – 294	92	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	76	1	N-linked (GlcNAc...) Potential
	Glycosylation	143	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	126 – 127	2	RS → SI in isoform 2.		VSP_025109
	Alternative sequence	128 – 294	167	Missing in isoform 2.		VSP_025110
	Natural variant	101	1	N → D: dbSNP rs12337286.		VAR_032136
	Natural variant	110	1	I → T: dbSNP rs12341576.		VAR_056727
	Natural variant	274	1	T → K: dbSNP rs41305329. Ref.1		VAR_032137
Experimental info
	Sequence conflict	282	1	D → N in CAC00687. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 15, 2007. Version 2. Checksum: 0EEB8BD5F22F4063	FASTA	294	32,840
	10 20 30 40 50 60 MNFILFIFIP GVFSLKSSTL KPTIEALPNV LPLNEDVNKQ EEKNEDHTPN YAPANEKNGN 70 80 90 100 110 120 YYKDIKQYVF TTQNPNGTES EISVRATTDL NFALKNDKTV NATTYEKSTI EEETTTSEPS 130 140 150 160 170 180 HKNIQRSTPN VPAFWTMLAK AINGTAVVMD DKDQLFHPIP ESDVNATQGE NQPDLEDLKI 190 200 210 220 230 240 KIMLGISLMT LLLFVVLLAF CSATLYKLRH LSYKSCESQY SVNPELATMS YFHPSEGVSD 250 260 270 280 290 TSFSKSAESS TFLGTTSSDM RRSGTRTSES KIMTDIISIG SDNEMHENDE SVTR
	Isoform 2. Checksum: 55DB058714124EDB	FASTA	127	14,360
	10 20 30 40 50 60 MNFILFIFIP GVFSLKSSTL KPTIEALPNV LPLNEDVNKQ EEKNEDHTPN YAPANEKNGN 70 80 90 100 110 120 YYKDIKQYVF TTQNPNGTES EISVRATTDL NFALKNDKTV NATTYEKSTI EEETTTSEPS HKNIQSI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer." Ruiz A., Pujana M.A., Estivill X. Biochim. Biophys. Acta 1517:128-134(2000) [PubMed: 11118625] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, ALTERNATIVE SPLICING, VARIANT LYS-274.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] 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 2). Tissue: Testis.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ278482 mRNA. Translation: CAC00687.1. AL133411 Genomic DNA. Translation: CAD13444.1. AL133411 Genomic DNA. Translation: CAI16056.1. BC014307 mRNA. Translation: AAH14307.1.
IPI	IPI00299475. IPI00642490.
RefSeq	NP_001155057.1. NP_065692.2.
UniGene	Hs.163070
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NQ60.
Proteomic databases
PRIDE	Q9NQ60.
Genome annotation databases
Ensembl	ENST00000380032; ENSP00000369371; ENSG00000120160; Homo sapiens. [Genome view]
GeneID	54586.
UCSC	uc003zqm.2. human.
Organism-specific databases
CTD	54586.
GeneCards	GC09M027274.
HGNC	HGNC:1359. C9orf11.
HPA	HPA015089. HPA015504.
PharmGKB	PA25969.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9NQ60.
OMA	AESSTFW
OrthoDB	EOG9TB6XK
Gene expression databases
ArrayExpress	Q9NQ60.
Bgee	Q9NQ60.
CleanEx	HS_C9orf11.
Genevestigator	Q9NQ60.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	57113.

Entry information

Entry name

AFAF_HUMAN

Accession

Primary (citable) accession number: Q9NQ60
Secondary accession number(s): Q5TCU1, Q96L22

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	May 15, 2007
Last modified:	November 24, 2009
This is version 42 of the entry and version 2 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.