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Protein

Protein FAM221B

Gene

FAM221B

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM221B
Gene namesi
Name:FAM221B
Synonyms:C9orf128
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000204930.9
HGNCiHGNC:30762 FAM221B
neXtProtiNX_A6H8Z2

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000204930
PharmGKBiPA134925958

Polymorphism and mutation databases

BioMutaiFAM221B

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003092641 – 402Protein FAM221BAdd BLAST402

Proteomic databases

PaxDbiA6H8Z2
PRIDEiA6H8Z2
ProteomicsDBi786
787 [A6H8Z2-2]
788 [A6H8Z2-3]

PTM databases

iPTMnetiA6H8Z2
PhosphoSitePlusiA6H8Z2

Expressioni

Gene expression databases

BgeeiENSG00000204930 Expressed in 49 organ(s), highest expression level in left testis
CleanExiHS_C9orf128
ExpressionAtlasiA6H8Z2 baseline and differential
GenevisibleiA6H8Z2 HS

Organism-specific databases

HPAiHPA023011
HPA026577

Interactioni

Protein-protein interaction databases

BioGridi134170, 9 interactors
IntActiA6H8Z2, 13 interactors

Structurei

3D structure databases

ProteinModelPortaliA6H8Z2
SMRiA6H8Z2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM221 family.Curated

Phylogenomic databases

eggNOGiENOG410IH2J Eukaryota
ENOG4111IP2 LUCA
GeneTreeiENSGT00770000120611
HOGENOMiHOG000111658
HOVERGENiHBG107686
InParanoidiA6H8Z2
OMAiGDESRCF
OrthoDBiEOG091G0DXI
PhylomeDBiA6H8Z2
TreeFamiTF328347

Family and domain databases

InterProiView protein in InterPro
IPR026755 Fam221a/b
PANTHERiPTHR31214 PTHR31214, 1 hit
PfamiView protein in Pfam
PF14753 FAM221, 2 hits

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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A6H8Z2-1) [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
MEAHEIIEEP HITMDAEKHP PSKDPSAEDL QENHISESFL KPSTSETPLE
60 70 80 90 100
PHTSESPLVP SPSQIPLEAH SPETHQEPSI SETPSETPTY EASLDSPISV
110 120 130 140 150
VPEKHLTLPP QSRDYVCLSS SDTLKEDLSS ESSSNEVPWT RRSTHLSESE
160 170 180 190 200
SLPEHCLSGP SSQVQVDTTE KQEEEAGEVE KGVDASDSTA HTAQPGHQLG
210 220 230 240 250
NTARPVFPAR QTELVEVAKA MHREEFGAQV NNLFQWEKDA ALNAIQTGLY
260 270 280 290 300
IGWRCPHYLW DCFRIGDESR CFCGHLLREH RIISDISVPC KVSQCRCFMF
310 320 330 340 350
CFIPSRPEEV GEFWLKRRAT FDPKAWRAQC RCKHSHEEHA ATGPHPCRHH
360 370 380 390 400
GCCCGCFESN FLCAACDRRW EEHETFFDTQ KTRQRGGRPR GTDTVSNWHR

PL
Length:402
Mass (Da):45,394
Last modified:September 23, 2008 - v2
Checksum:iED813EC433F169A3
GO
Isoform 2 (identifier: A6H8Z2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-246: Missing.
     247-247: T → M

Show »
Length:156
Mass (Da):18,451
Checksum:i185FE99DD27B325B
GO
Isoform 3 (identifier: A6H8Z2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     248-340: GLYIGWRCPH...RCKHSHEEHA → DRIRNSSSGI...MSPDAFVDTC
     341-402: Missing.

Note: No experimental confirmation available.
Show »
Length:340
Mass (Da):36,887
Checksum:iB1CE934CB5CBF4F4
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W8N9F8W8N9_HUMAN
Protein FAM221B
FAM221B
301Annotation score:
C9JPK8C9JPK8_HUMAN
Protein FAM221B
FAM221B
90Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06159834H → R1 PublicationCorresponds to variant dbSNP:rs13294256Ensembl.1
Natural variantiVAR_06159941K → E1 PublicationCorresponds to variant dbSNP:rs13294245Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0354861 – 246Missing in isoform 2. 1 PublicationAdd BLAST246
Alternative sequenceiVSP_035487247T → M in isoform 2. 1 Publication1
Alternative sequenceiVSP_036643248 – 340GLYIG…HEEHA → DRIRNSSSGILAPAHLHCDC LYLALSTKPPWCKGALALQA ISIKTEEAKPKATSRQALDP DRLWVSTLAGAAPITYGTVS GLGMSPDAFVDTC in isoform 3. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_036644341 – 402Missing in isoform 3. 1 PublicationAdd BLAST62

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX648702 mRNA No translation available.
AL133410 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58330.1
BC146808 mRNA Translation: AAI46809.1
AI809547 mRNA No translation available.
CCDSiCCDS43799.2 [A6H8Z2-1]
RefSeqiNP_001012448.2, NM_001012446.3 [A6H8Z2-1]
UniGeneiHs.128075

Genome annotation databases

EnsembliENST00000388950; ENSP00000373602; ENSG00000204930 [A6H8Z2-3]
ENST00000423537; ENSP00000415299; ENSG00000204930 [A6H8Z2-1]
GeneIDi392307
KEGGihsa:392307
UCSCiuc003zyj.3 human [A6H8Z2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX648702 mRNA No translation available.
AL133410 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58330.1
BC146808 mRNA Translation: AAI46809.1
AI809547 mRNA No translation available.
CCDSiCCDS43799.2 [A6H8Z2-1]
RefSeqiNP_001012448.2, NM_001012446.3 [A6H8Z2-1]
UniGeneiHs.128075

3D structure databases

ProteinModelPortaliA6H8Z2
SMRiA6H8Z2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi134170, 9 interactors
IntActiA6H8Z2, 13 interactors

PTM databases

iPTMnetiA6H8Z2
PhosphoSitePlusiA6H8Z2

Polymorphism and mutation databases

BioMutaiFAM221B

Proteomic databases

PaxDbiA6H8Z2
PRIDEiA6H8Z2
ProteomicsDBi786
787 [A6H8Z2-2]
788 [A6H8Z2-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000388950; ENSP00000373602; ENSG00000204930 [A6H8Z2-3]
ENST00000423537; ENSP00000415299; ENSG00000204930 [A6H8Z2-1]
GeneIDi392307
KEGGihsa:392307
UCSCiuc003zyj.3 human [A6H8Z2-1]

Organism-specific databases

CTDi392307
EuPathDBiHostDB:ENSG00000204930.9
GeneCardsiFAM221B
H-InvDBiHIX0025899
HGNCiHGNC:30762 FAM221B
HPAiHPA023011
HPA026577
neXtProtiNX_A6H8Z2
OpenTargetsiENSG00000204930
PharmGKBiPA134925958
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH2J Eukaryota
ENOG4111IP2 LUCA
GeneTreeiENSGT00770000120611
HOGENOMiHOG000111658
HOVERGENiHBG107686
InParanoidiA6H8Z2
OMAiGDESRCF
OrthoDBiEOG091G0DXI
PhylomeDBiA6H8Z2
TreeFamiTF328347

Miscellaneous databases

GenomeRNAii392307
PROiPR:A6H8Z2

Gene expression databases

BgeeiENSG00000204930 Expressed in 49 organ(s), highest expression level in left testis
CleanExiHS_C9orf128
ExpressionAtlasiA6H8Z2 baseline and differential
GenevisibleiA6H8Z2 HS

Family and domain databases

InterProiView protein in InterPro
IPR026755 Fam221a/b
PANTHERiPTHR31214 PTHR31214, 1 hit
PfamiView protein in Pfam
PF14753 FAM221, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiF221B_HUMAN
AccessioniPrimary (citable) accession number: A6H8Z2
Secondary accession number(s): Q5TCW2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: September 23, 2008
Last modified: November 7, 2018
This is version 78 of the entry and version 2 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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