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Protein

Protein FAM221A

Gene

FAM221A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM221A
Gene namesi
Name:FAM221A
Synonyms:C7orf46
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:27977. FAM221A.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162380501.

Polymorphism and mutation databases

BioMutaiFAM221A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 298298Protein FAM221APRO_0000295139Add
BLAST

Proteomic databases

MaxQBiA4D161.
PaxDbiA4D161.
PRIDEiA4D161.

PTM databases

PhosphoSiteiA4D161.

Expressioni

Gene expression databases

BgeeiA4D161.
CleanExiHS_C7orf46.
ExpressionAtlasiA4D161. baseline and differential.
GenevestigatoriA4D161.

Organism-specific databases

HPAiHPA019719.
HPA026748.
HPA026752.

Interactioni

Protein-protein interaction databases

BioGridi131030. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliA4D161.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM221 family.Curated

Phylogenomic databases

eggNOGiNOG45810.
GeneTreeiENSGT00770000120611.
HOGENOMiHOG000007173.
HOVERGENiHBG054942.
InParanoidiA4D161.
OMAiPQQRPID.
OrthoDBiEOG7R831V.
PhylomeDBiA4D161.
TreeFamiTF329392.

Family and domain databases

InterProiIPR026755. Fam221a/b.
[Graphical view]
PANTHERiPTHR31214. PTHR31214. 1 hit.
PfamiPF14753. DUF4475. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A4D161-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MERLTLPLGG AAAVDEYLEY RRIVGEDDGG KLFTPEEYEE YKRKVLPLRL
60 70 80 90 100
QNRLFVSWRS PTGMDCKLVG PETLCFCTHR YKQHKTDLEA IPQQCPIDLP
110 120 130 140 150
CQVTGCQCRA YLYVPLNGSQ PIRCRCKHFA DQHSAAPGFT CNTCSKCSGF
160 170 180 190 200
HSCFTCACGQ PAYAHDTVVE TKQERLAQEK PVGQDIPYAA MGGLTGFSSL
210 220 230 240 250
AEGYMRLDDS GIGVPSVEFL ESPITAVDSP FLKAFQASSS SSPETLTDVG
260 270 280 290
TSSQVSSLRR PEEDDMAFFE RRYQERMKME KAAKWKGKAP LPSATKPS
Length:298
Mass (Da):33,083
Last modified:April 3, 2007 - v1
Checksum:iED00395F79B78288
GO
Isoform 2 (identifier: A4D161-2) [UniParc]FASTAAdd to basket

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

Show »
Length:262
Mass (Da):29,359
Checksum:iF691A7A6893D8B59
GO
Isoform 3 (identifier: A4D161-3) [UniParc]FASTAAdd to basket

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

Show »
Length:204
Mass (Da):22,617
Checksum:iC13F02A817A423B2
GO

Sequence cautioni

The sequence AAH26000.1 differs from that shown. Reason: Frameshift at position 9. Curated
The sequence AAH42034.1 differs from that shown. Reason: Frameshift at position 101. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti101 – 1011C → R in AAH42034 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201Y → H.1 Publication
Corresponds to variant rs17855785 [ dbSNP | Ensembl ].
VAR_033215
Natural varianti90 – 901A → T.
Corresponds to variant rs34518648 [ dbSNP | Ensembl ].
VAR_033216
Natural varianti95 – 951C → R.
Corresponds to variant rs35495590 [ dbSNP | Ensembl ].
VAR_033217
Natural varianti128 – 1281H → R.1 Publication
Corresponds to variant rs17855786 [ dbSNP | Ensembl ].
VAR_033218
Natural varianti240 – 2401S → G.
Corresponds to variant rs35928055 [ dbSNP | Ensembl ].
VAR_033219

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei23 – 8058Missing in isoform 3. 1 PublicationVSP_026738Add
BLAST
Alternative sequencei213 – 24836Missing in isoform 2 and isoform 3. 1 PublicationVSP_026739Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CH236948 Genomic DNA. Translation: EAL24251.1.
BC026000 mRNA. Translation: AAH26000.1. Frameshift.
BC042034 mRNA. Translation: AAH42034.1. Frameshift.
BC063130 mRNA. Translation: AAH63130.1.
CCDSiCCDS47561.1. [A4D161-2]
CCDS47562.1. [A4D161-3]
CCDS5385.1. [A4D161-1]
RefSeqiNP_001120836.1. NM_001127364.2. [A4D161-2]
NP_001120837.1. NM_001127365.2. [A4D161-3]
NP_001287861.1. NM_001300932.1.
NP_954587.2. NM_199136.4. [A4D161-1]
UniGeneiHs.592178.
Hs.598870.

Genome annotation databases

EnsembliENST00000344962; ENSP00000342576; ENSG00000188732. [A4D161-1]
ENST00000409192; ENSP00000386927; ENSG00000188732. [A4D161-2]
ENST00000409994; ENSP00000386631; ENSG00000188732. [A4D161-3]
GeneIDi340277.
KEGGihsa:340277.
UCSCiuc003swo.4. human. [A4D161-1]
uc003swq.4. human. [A4D161-2]
uc003swr.4. human. [A4D161-3]

Polymorphism and mutation databases

BioMutaiFAM221A.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CH236948 Genomic DNA. Translation: EAL24251.1.
BC026000 mRNA. Translation: AAH26000.1. Frameshift.
BC042034 mRNA. Translation: AAH42034.1. Frameshift.
BC063130 mRNA. Translation: AAH63130.1.
CCDSiCCDS47561.1. [A4D161-2]
CCDS47562.1. [A4D161-3]
CCDS5385.1. [A4D161-1]
RefSeqiNP_001120836.1. NM_001127364.2. [A4D161-2]
NP_001120837.1. NM_001127365.2. [A4D161-3]
NP_001287861.1. NM_001300932.1.
NP_954587.2. NM_199136.4. [A4D161-1]
UniGeneiHs.592178.
Hs.598870.

3D structure databases

ProteinModelPortaliA4D161.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131030. 3 interactions.

PTM databases

PhosphoSiteiA4D161.

Polymorphism and mutation databases

BioMutaiFAM221A.

Proteomic databases

MaxQBiA4D161.
PaxDbiA4D161.
PRIDEiA4D161.

Protocols and materials databases

DNASUi340277.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344962; ENSP00000342576; ENSG00000188732. [A4D161-1]
ENST00000409192; ENSP00000386927; ENSG00000188732. [A4D161-2]
ENST00000409994; ENSP00000386631; ENSG00000188732. [A4D161-3]
GeneIDi340277.
KEGGihsa:340277.
UCSCiuc003swo.4. human. [A4D161-1]
uc003swq.4. human. [A4D161-2]
uc003swr.4. human. [A4D161-3]

Organism-specific databases

CTDi340277.
GeneCardsiGC07P023720.
HGNCiHGNC:27977. FAM221A.
HPAiHPA019719.
HPA026748.
HPA026752.
neXtProtiNX_A4D161.
PharmGKBiPA162380501.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG45810.
GeneTreeiENSGT00770000120611.
HOGENOMiHOG000007173.
HOVERGENiHBG054942.
InParanoidiA4D161.
OMAiPQQRPID.
OrthoDBiEOG7R831V.
PhylomeDBiA4D161.
TreeFamiTF329392.

Miscellaneous databases

GenomeRNAii340277.
NextBioi97798.
PROiA4D161.

Gene expression databases

BgeeiA4D161.
CleanExiHS_C7orf46.
ExpressionAtlasiA4D161. baseline and differential.
GenevestigatoriA4D161.

Family and domain databases

InterProiIPR026755. Fam221a/b.
[Graphical view]
PANTHERiPTHR31214. PTHR31214. 1 hit.
PfamiPF14753. DUF4475. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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.

Entry informationi

Entry nameiF221A_HUMAN
AccessioniPrimary (citable) accession number: A4D161
Secondary accession number(s): Q05CG4, Q4G0Q7, Q6P519
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: April 3, 2007
Last modified: April 29, 2015
This is version 62 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.