A4D161 (F221A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FAM221A

Gene names

Name:	FAM221A
Synonyms:	C7orf46

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	298 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Belongs to the FAM221 family.
Sequence caution	The sequence AAH26000.1 differs from that shown. Reason: Frameshift at position 9. The sequence AAH42034.1 differs from that shown. Reason: Frameshift at position 101.

Ontologies

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: A4D161-1)

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: A4D161-2)

The sequence of this isoform differs from the canonical sequence as follows:
     213-248: Missing.

Isoform 3 (identifier: A4D161-3)

The sequence of this isoform differs from the canonical sequence as follows:
     23-80: Missing.
     213-248: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 298	298	Protein FAM221A		PRO_0000295139
Natural variations
	Alternative sequence	23 – 80	58	Missing in isoform 3.		VSP_026738
	Alternative sequence	213 – 248	36	Missing in isoform 2 and isoform 3.		VSP_026739
	Natural variant	20	1	Y → H. Ref.2 Corresponds to variant rs17855785 [ dbSNP | Ensembl ].		VAR_033215
	Natural variant	90	1	A → T. Corresponds to variant rs34518648 [ dbSNP | Ensembl ].		VAR_033216
	Natural variant	95	1	C → R. Corresponds to variant rs35495590 [ dbSNP | Ensembl ].		VAR_033217
	Natural variant	128	1	H → R. Ref.2 Corresponds to variant rs17855786 [ dbSNP | Ensembl ].		VAR_033218
	Natural variant	240	1	S → G. Corresponds to variant rs35928055 [ dbSNP | Ensembl ].		VAR_033219
Experimental info
	Sequence conflict	101	1	C → R in AAH42034. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 3, 2007. Version 1. Checksum: ED00395F79B78288	FASTA	298	33,083
	10 20 30 40 50 60 MERLTLPLGG AAAVDEYLEY RRIVGEDDGG KLFTPEEYEE YKRKVLPLRL QNRLFVSWRS 70 80 90 100 110 120 PTGMDCKLVG PETLCFCTHR YKQHKTDLEA IPQQCPIDLP CQVTGCQCRA YLYVPLNGSQ 130 140 150 160 170 180 PIRCRCKHFA DQHSAAPGFT CNTCSKCSGF HSCFTCACGQ PAYAHDTVVE TKQERLAQEK 190 200 210 220 230 240 PVGQDIPYAA MGGLTGFSSL AEGYMRLDDS GIGVPSVEFL ESPITAVDSP FLKAFQASSS 250 260 270 280 290 SSPETLTDVG TSSQVSSLRR PEEDDMAFFE RRYQERMKME KAAKWKGKAP LPSATKPS
	Isoform 2 [UniParc]. Checksum: F691A7A6893D8B59	FASTA	262	29,359
	10 20 30 40 50 60 MERLTLPLGG AAAVDEYLEY RRIVGEDDGG KLFTPEEYEE YKRKVLPLRL QNRLFVSWRS 70 80 90 100 110 120 PTGMDCKLVG PETLCFCTHR YKQHKTDLEA IPQQCPIDLP CQVTGCQCRA YLYVPLNGSQ 130 140 150 160 170 180 PIRCRCKHFA DQHSAAPGFT CNTCSKCSGF HSCFTCACGQ PAYAHDTVVE TKQERLAQEK 190 200 210 220 230 240 PVGQDIPYAA MGGLTGFSSL AEGYMRLDDS GIVGTSSQVS SLRRPEEDDM AFFERRYQER 250 260 MKMEKAAKWK GKAPLPSATK PS
	Isoform 3 [UniParc]. Checksum: C13F02A817A423B2	FASTA	204	22,617
	10 20 30 40 50 60 MERLTLPLGG AAAVDEYLEY RRYKQHKTDL EAIPQQCPID LPCQVTGCQC RAYLYVPLNG 70 80 90 100 110 120 SQPIRCRCKH FADQHSAAPG FTCNTCSKCS GFHSCFTCAC GQPAYAHDTV VETKQERLAQ 130 140 150 160 170 180 EKPVGQDIPY AAMGGLTGFS SLAEGYMRLD DSGIVGTSSQ VSSLRRPEED DMAFFERRYQ 190 200 ERMKMEKAAK WKGKAPLPSA TKPS

References

[1]

"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

[2]

"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] (ISOFORMS 1; 2 AND 3), VARIANTS HIS-20 AND ARG-128. Tissue: Blood vessel, Brain and Lung.

Cross-references

Sequence databases
EMBL GenBank DDBJ	CH236948 Genomic DNA. Translation: EAL24251.1. BC026000 mRNA. Translation: AAH26000.1. Frameshift. BC042034 mRNA. Translation: AAH42034.1. Frameshift. BC063130 mRNA. Translation: AAH63130.1.
IPI	IPI00395803. IPI00852812. IPI00853231.
RefSeq	NP_001120836.1. NM_001127364.1. NP_001120837.1. NM_001127365.1. NP_954587.2. NM_199136.3.
UniGene	Hs.592178.
3D structure databases
ProteinModelPortal	A4D161.
ModBase	Search...
PTM databases
PhosphoSite	A4D161.
Proteomic databases
PaxDb	A4D161.
PRIDE	A4D161.
Protocols and materials databases
DNASU	340277.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000344962; ENSP00000342576; ENSG00000188732. ENST00000409192; ENSP00000386927; ENSG00000188732. ENST00000409994; ENSP00000386631; ENSG00000188732.
GeneID	340277.
KEGG	hsa:340277.
UCSC	uc003swo.4. human. uc003swq.4. human. uc003swr.4. human.
Organism-specific databases
CTD	340277.
GeneCards	GC07P023720.
HGNC	HGNC:27977. FAM221A.
HPA	HPA019719. HPA026748. HPA026752.
neXtProt	NX_A4D161.
PharmGKB	PA162380501.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45810.
HOGENOM	HOG000007173.
HOVERGEN	HBG054942.
InParanoid	A4D161.
OMA	GSQPIRC.
PhylomeDB	A4D161.
Gene expression databases
ArrayExpress	A4D161.
Bgee	A4D161.
CleanEx	HS_C7orf46.
Genevestigator	A4D161.
Family and domain databases
InterPro	IPR026755. Fam221a. [Graphical view]
PANTHER	PTHR31214. PTHR31214. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	340277.
NextBio	97798.

Entry information

Entry name

F221A_HUMAN

Accession

Primary (citable) accession number: A4D161
Secondary accession number(s): Q05CG4, Q4G0Q7, Q6P519

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 10, 2007
Last sequence update:	April 3, 2007
Last modified:	April 3, 2013
This is version 49 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.