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Entry version 116 (26 Feb 2020)
Sequence version 1 (01 Jun 2001)
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Protein

Transmembrane protein 121B

Gene

TMEM121B

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 any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.1 Publication

<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%5Fand%5Ftaxonomy%5Fsection">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:
Transmembrane protein 121BCurated
Alternative name(s):
Cat eye syndrome critical region protein 61 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:TMEM121BImported
Synonyms:CECR61 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1844 TMEM121B

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BXQ6

<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
ENSG00000183307

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26387

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BXQ6 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMEM121B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20177840

<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_00000894661 – 578Transmembrane protein 121BAdd BLAST578

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei167PhosphoserineBy similarity1
Modified residuei552PhosphoserineBy similarity1

<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 - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BXQ6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BXQ6

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

More...
PaxDbi
Q9BXQ6

PeptideAtlas

More...
PeptideAtlasi
Q9BXQ6

PRoteomics IDEntifications database

More...
PRIDEi
Q9BXQ6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
2436
79482 [Q9BXQ6-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BXQ6

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

More...
PhosphoSitePlusi
Q9BXQ6

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed, especially in adult heart, brain, prostate, testes, peripherical blood leukocytes and fetal brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000183307 Expressed in caudate nucleus and 81 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BXQ6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA068790

<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
118172, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000329318

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9BXQ6 protein

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi34 – 165Gly-richAdd BLAST132
Compositional biasi55 – 59Poly-Gly5
Compositional biasi62 – 66Poly-Gly5
Compositional biasi168 – 177Poly-Cys10
Compositional biasi256 – 317Ala-richAdd BLAST62
Compositional biasi261 – 269Poly-His9
Compositional biasi448 – 454Poly-Ala7
Compositional biasi541 – 548Poly-Pro8

<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 TMEM121 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410II5F Eukaryota
ENOG4111F3U LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154822

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_071314_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BXQ6

Identification of Orthologs from Complete Genome Data

More...
OMAi
SSAHNHH

Database of Orthologous Groups

More...
OrthoDBi
1029672at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BXQ6

TreeFam database of animal gene trees

More...
TreeFami
TF336944

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026624 CECR6
IPR032776 CECR6/TMEM121

The PANTHER Classification System

More...
PANTHERi
PTHR47399 PTHR47399, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14997 CECR6_TMEM121, 1 hit

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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
Isoform 1 (identifier: Q9BXQ6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MRPALGHPRS VSSASGSFPP PPAAARLQPL FLRGGSFRGR RGSGDSSTST
60 70 80 90 100
STSRGGGGGR RGGGGGSPSS STGAEREDDD ESLSVSKPLV PNAALLGPPA
110 120 130 140 150
QVGAPAGPAP VAFSSSAATS SSTSTPTSSC SMTAADFGGG AAAGAVGGPG
160 170 180 190 200
SRSAGGAGGT GTGSGASCCP CCCCCGCPDR PGRRGRRRGC APSPRCRWGY
210 220 230 240 250
QALSVVLLLA QGGLLDLYLI AVTDLYWCSW IATDLVVVVG WAIFFAKNSR
260 270 280 290 300
GRRGGAASGA HNHHLHHHHA APPLHLPAPS AATAGAKARG ARGGAGGAGG
310 320 330 340 350
GLGAAAAAGE FAFAYLAWLI YSIAFTPKVV LILGTSILDL IELRAPFGTT
360 370 380 390 400
GFRLTMALSV PLLYSLVRAI SEAGAPPGSA GPLLLQPQRH RAAGCFLGTC
410 420 430 440 450
LDLLDSFTLV ELMLEGRVPL PAHLRYLLIA VYFLTLASPV LWLYELNAAA
460 470 480 490 500
AAAASWGQAS GPGSCSRLLR LLGGCLVDVP LLALRCLLVV SYQQPLSIFM
510 520 530 540 550
LKNLFFLGCR GLEALEGCWD RGNRASPSRA RGGYGAPPSA PPPPPPPPQG
560 570
GSQLGHCISE NEGGAHGYVN TLAVASQN
Length:578
Mass (Da):58,425
Last modified:June 1, 2001 - v1
<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:i19ECE9E0873A2891
GO
Isoform 2 (identifier: Q9BXQ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-355: Missing.

Show »
Length:223
Mass (Da):23,409
Checksum:i886ED6689D0911A7
GO

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_0453981 – 355Missing in isoform 2. 1 PublicationAdd BLAST355

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF307451 mRNA Translation: AAK30049.1
AK095609 mRNA No translation available.
AC006946 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13740.1 [Q9BXQ6-1]
CCDS54494.1 [Q9BXQ6-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001156551.1, NM_001163079.1 [Q9BXQ6-2]
NP_114096.1, NM_031890.3 [Q9BXQ6-1]
XP_011544426.1, XM_011546124.2 [Q9BXQ6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000331437; ENSP00000329318; ENSG00000183307 [Q9BXQ6-1]
ENST00000399875; ENSP00000382764; ENSG00000183307 [Q9BXQ6-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
27439

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:27439

UCSC genome browser

More...
UCSCi
uc002zma.2 human [Q9BXQ6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF307451 mRNA Translation: AAK30049.1
AK095609 mRNA No translation available.
AC006946 Genomic DNA No translation available.
CCDSiCCDS13740.1 [Q9BXQ6-1]
CCDS54494.1 [Q9BXQ6-2]
RefSeqiNP_001156551.1, NM_001163079.1 [Q9BXQ6-2]
NP_114096.1, NM_031890.3 [Q9BXQ6-1]
XP_011544426.1, XM_011546124.2 [Q9BXQ6-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi118172, 1 interactor
STRINGi9606.ENSP00000329318

PTM databases

iPTMnetiQ9BXQ6
PhosphoSitePlusiQ9BXQ6

Polymorphism and mutation databases

BioMutaiTMEM121B
DMDMi20177840

Proteomic databases

jPOSTiQ9BXQ6
MassIVEiQ9BXQ6
PaxDbiQ9BXQ6
PeptideAtlasiQ9BXQ6
PRIDEiQ9BXQ6
ProteomicsDBi2436
79482 [Q9BXQ6-1]

Genome annotation databases

EnsembliENST00000331437; ENSP00000329318; ENSG00000183307 [Q9BXQ6-1]
ENST00000399875; ENSP00000382764; ENSG00000183307 [Q9BXQ6-2]
GeneIDi27439
KEGGihsa:27439
UCSCiuc002zma.2 human [Q9BXQ6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
27439

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMEM121B
HGNCiHGNC:1844 TMEM121B
HPAiHPA068790
neXtProtiNX_Q9BXQ6
OpenTargetsiENSG00000183307
PharmGKBiPA26387

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410II5F Eukaryota
ENOG4111F3U LUCA
GeneTreeiENSGT00940000154822
HOGENOMiCLU_071314_0_0_1
InParanoidiQ9BXQ6
OMAiSSAHNHH
OrthoDBi1029672at2759
PhylomeDBiQ9BXQ6
TreeFamiTF336944

Miscellaneous databases

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

More...
GenomeRNAii
27439
PharosiQ9BXQ6 Tdark

Protein Ontology

More...
PROi
PR:Q9BXQ6
RNActiQ9BXQ6 protein

Gene expression databases

BgeeiENSG00000183307 Expressed in caudate nucleus and 81 other tissues
GenevisibleiQ9BXQ6 HS

Family and domain databases

InterProiView protein in InterPro
IPR026624 CECR6
IPR032776 CECR6/TMEM121
PANTHERiPTHR47399 PTHR47399, 1 hit
PfamiView protein in Pfam
PF14997 CECR6_TMEM121, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiT121B_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: Q9BXQ6
Secondary accession number(s): A8MYY1
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: February 26, 2020
This is version 116 of the entry and version 1 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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