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A4D161 (F221A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 55. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FAM221A
Gene names
Name:FAM221A
Synonyms:C7orf46
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length298 AA.
Sequence statusComplete.
Protein existenceEvidence 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 diversityAlternative splicing
Polymorphism
   Technical termComplete 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 298298Protein FAM221A
PRO_0000295139

Natural variations

Alternative sequence23 – 8058Missing in isoform 3.
VSP_026738
Alternative sequence213 – 24836Missing in isoform 2 and isoform 3.
VSP_026739
Natural variant201Y → H. Ref.2
Corresponds to variant rs17855785 [ dbSNP | Ensembl ].
VAR_033215
Natural variant901A → T.
Corresponds to variant rs34518648 [ dbSNP | Ensembl ].
VAR_033216
Natural variant951C → R.
Corresponds to variant rs35495590 [ dbSNP | Ensembl ].
VAR_033217
Natural variant1281H → R. Ref.2
Corresponds to variant rs17855786 [ dbSNP | Ensembl ].
VAR_033218
Natural variant2401S → G.
Corresponds to variant rs35928055 [ dbSNP | Ensembl ].
VAR_033219

Experimental info

Sequence conflict1011C → R in AAH42034. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 3, 2007. Version 1.
Checksum: ED00395F79B78288

FASTA29833,083
        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 

« Hide

Isoform 2 [UniParc].

Checksum: F691A7A6893D8B59
Show »

FASTA26229,359
Isoform 3 [UniParc].

Checksum: C13F02A817A423B2
Show »

FASTA20422,617

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. expand/collapse author list , 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.
RefSeqNP_001120836.1. NM_001127364.1.
NP_001120837.1. NM_001127365.1.
NP_954587.2. NM_199136.3.
UniGeneHs.592178.

3D structure databases

ProteinModelPortalA4D161.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteA4D161.

Proteomic databases

PaxDbA4D161.
PRIDEA4D161.

Protocols and materials databases

DNASU340277.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344962; ENSP00000342576; ENSG00000188732. [A4D161-1]
ENST00000409192; ENSP00000386927; ENSG00000188732. [A4D161-2]
ENST00000409994; ENSP00000386631; ENSG00000188732. [A4D161-3]
GeneID340277.
KEGGhsa:340277.
UCSCuc003swo.4. human. [A4D161-1]
uc003swq.4. human. [A4D161-2]
uc003swr.4. human. [A4D161-3]

Organism-specific databases

CTD340277.
GeneCardsGC07P023720.
HGNCHGNC:27977. FAM221A.
HPAHPA019719.
HPA026748.
HPA026752.
neXtProtNX_A4D161.
PharmGKBPA162380501.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45810.
HOGENOMHOG000007173.
HOVERGENHBG054942.
InParanoidA4D161.
OMAKKVLPMR.
OrthoDBEOG7R831V.
PhylomeDBA4D161.
TreeFamTF329392.

Gene expression databases

ArrayExpressA4D161.
BgeeA4D161.
CleanExHS_C7orf46.
GenevestigatorA4D161.

Family and domain databases

InterProIPR026755. Fam221a/b.
[Graphical view]
PANTHERPTHR31214. PTHR31214. 1 hit.
PfamPF14753. DUF4475. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi340277.
NextBio97798.
PROA4D161.

Entry information

Entry nameF221A_HUMAN
AccessionPrimary (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: March 19, 2014
This is version 55 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM