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Entry version 81 (08 May 2019)
Sequence version 2 (23 Sep 2008)
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Protein

Protein FAM221B

Gene

FAM221B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein FAM221B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FAM221B
Synonyms:C9orf128
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30762 FAM221B

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A6H8Z2

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000204930

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134925958

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAM221B

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003092641 – 402Protein FAM221BAdd BLAST402

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
A6H8Z2

PRoteomics IDEntifications database

More...
PRIDEi
A6H8Z2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
786
787 [A6H8Z2-2]
788 [A6H8Z2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
A6H8Z2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
A6H8Z2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000204930 Expressed in 49 organ(s), highest expression level in left testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
A6H8Z2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
A6H8Z2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023011
HPA026577

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
134170, 9 interactors

Protein interaction database and analysis system

More...
IntActi
A6H8Z2, 13 interactors

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
A6H8Z2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAM221 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IH2J Eukaryota
ENOG4111IP2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00770000120611

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111658

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
A6H8Z2

Identification of Orthologs from Complete Genome Data

More...
OMAi
HEDHAAT

Database of Orthologous Groups

More...
OrthoDBi
973186at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
A6H8Z2

TreeFam database of animal gene trees

More...
TreeFami
TF328347

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026755 Fam221a/b

The PANTHER Classification System

More...
PANTHERi
PTHR31214 PTHR31214, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14753 FAM221, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JPK8C9JPK8_HUMAN
Protein FAM221B
FAM221B
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43799.2 [A6H8Z2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001012448.2, NM_001012446.3 [A6H8Z2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000388950; ENSP00000373602; ENSG00000204930 [A6H8Z2-3]
ENST00000423537; ENSP00000415299; ENSG00000204930 [A6H8Z2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
392307

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:392307

UCSC genome browser

More...
UCSCi
uc003zyj.3 human [A6H8Z2-1]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

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

Comparative Toxicogenomics Database

More...
CTDi
392307

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FAM221B

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0025899
HGNCiHGNC:30762 FAM221B
HPAiHPA023011
HPA026577
neXtProtiNX_A6H8Z2
OpenTargetsiENSG00000204930
PharmGKBiPA134925958

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH2J Eukaryota
ENOG4111IP2 LUCA
GeneTreeiENSGT00770000120611
HOGENOMiHOG000111658
InParanoidiA6H8Z2
OMAiHEDHAAT
OrthoDBi973186at2759
PhylomeDBiA6H8Z2
TreeFamiTF328347

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
392307

Protein Ontology

More...
PROi
PR:A6H8Z2

Gene expression databases

BgeeiENSG00000204930 Expressed in 49 organ(s), highest expression level in left testis
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiF221B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: A6H8Z2
Secondary accession number(s): Q5TCW2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: September 23, 2008
Last modified: May 8, 2019
This is version 81 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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