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Protein

Protein FAM221A

Gene

FAM221A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM221A
Gene namesi
Name:FAM221A
Synonyms:C7orf46
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000188732.10
HGNCiHGNC:27977 FAM221A
neXtProtiNX_A4D161

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000188732
PharmGKBiPA162380501

Polymorphism and mutation databases

BioMutaiFAM221A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002951391 – 298Protein FAM221AAdd BLAST298

Proteomic databases

EPDiA4D161
MaxQBiA4D161
PaxDbiA4D161
PRIDEiA4D161
ProteomicsDBi604
605 [A4D161-2]
606 [A4D161-3]
TopDownProteomicsiA4D161-1 [A4D161-1]

PTM databases

iPTMnetiA4D161
PhosphoSitePlusiA4D161

Expressioni

Gene expression databases

BgeeiENSG00000188732 Expressed in 181 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_C7orf46
ExpressionAtlasiA4D161 baseline and differential
GenevisibleiA4D161 HS

Organism-specific databases

HPAiHPA019719
HPA026748
HPA026752

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
HOXA1P496394EBI-11960181,EBI-740785

Protein-protein interaction databases

BioGridi131030, 3 interactors
IntActiA4D161, 16 interactors

Structurei

3D structure databases

ProteinModelPortaliA4D161
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM221 family.Curated

Phylogenomic databases

eggNOGiENOG410IDX8 Eukaryota
ENOG410XQZY LUCA
GeneTreeiENSGT00770000120611
HOGENOMiHOG000007173
HOVERGENiHBG054942
InParanoidiA4D161
OMAiRVTGCQC
OrthoDBiEOG091G0CWG
PhylomeDBiA4D161
TreeFamiTF329392

Family and domain databases

InterProiView protein in InterPro
IPR026755 Fam221a/b
PANTHERiPTHR31214 PTHR31214, 1 hit
PfamiView protein in Pfam
PF14753 FAM221, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B8ZZQ8B8ZZQ8_HUMAN
Protein FAM221A
FAM221A MGC72075, hCG_37984
240Annotation score:
F8WCP2F8WCP2_HUMAN
Protein FAM221A
FAM221A
98Annotation score:
F8WCP3F8WCP3_HUMAN
Protein FAM221A
FAM221A
114Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti101C → R in AAH42034 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03321520Y → H1 PublicationCorresponds to variant dbSNP:rs17855785Ensembl.1
Natural variantiVAR_03321690A → T. Corresponds to variant dbSNP:rs34518648Ensembl.1
Natural variantiVAR_03321795C → R. Corresponds to variant dbSNP:rs35495590Ensembl.1
Natural variantiVAR_033218128H → R1 PublicationCorresponds to variant dbSNP:rs17855786Ensembl.1
Natural variantiVAR_033219240S → G. Corresponds to variant dbSNP:rs35928055Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02673823 – 80Missing in isoform 3. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_026739213 – 248Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST36

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]
XP_011513671.1, XM_011515369.2 [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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
XP_011513671.1, XM_011515369.2 [A4D161-1]
UniGeneiHs.592178
Hs.598870

3D structure databases

ProteinModelPortaliA4D161
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131030, 3 interactors
IntActiA4D161, 16 interactors

PTM databases

iPTMnetiA4D161
PhosphoSitePlusiA4D161

Polymorphism and mutation databases

BioMutaiFAM221A

Proteomic databases

EPDiA4D161
MaxQBiA4D161
PaxDbiA4D161
PRIDEiA4D161
ProteomicsDBi604
605 [A4D161-2]
606 [A4D161-3]
TopDownProteomicsiA4D161-1 [A4D161-1]

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]

Organism-specific databases

CTDi340277
EuPathDBiHostDB:ENSG00000188732.10
GeneCardsiFAM221A
HGNCiHGNC:27977 FAM221A
HPAiHPA019719
HPA026748
HPA026752
neXtProtiNX_A4D161
OpenTargetsiENSG00000188732
PharmGKBiPA162380501
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IDX8 Eukaryota
ENOG410XQZY LUCA
GeneTreeiENSGT00770000120611
HOGENOMiHOG000007173
HOVERGENiHBG054942
InParanoidiA4D161
OMAiRVTGCQC
OrthoDBiEOG091G0CWG
PhylomeDBiA4D161
TreeFamiTF329392

Miscellaneous databases

GenomeRNAii340277
PROiPR:A4D161

Gene expression databases

BgeeiENSG00000188732 Expressed in 181 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_C7orf46
ExpressionAtlasiA4D161 baseline and differential
GenevisibleiA4D161 HS

Family and domain databases

InterProiView protein in InterPro
IPR026755 Fam221a/b
PANTHERiPTHR31214 PTHR31214, 1 hit
PfamiView protein in Pfam
PF14753 FAM221, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiF221A_HUMAN
AccessioniPrimary (citable) accession number: A4D161
Secondary accession number(s): Q05CG4, Q4G0Q7, Q6P519
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: April 3, 2007
Last modified: November 7, 2018
This is version 86 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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