MMS22L
Protein MMS22-like
Also known as: C6orf167, dJ39B17.2, MMS22_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6ZRQ5
- Gene
- MMS22L
- Ensembl
- ENSG00000146263
- Chromosome
- 6
- Canonical length
- 1243 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
Canonical amino-acid sequenceUniProt
1243 residues, UniProt reviewed canonical sequence.
>Q6ZRQ5|MMS22L
1 MENCSAASTF LTDSLELELG TEWCKPPYFS CAVDNRGGGK HFSGESYLCS GALKRLILNL
61 DPLPTNFEED TLEIFGIQWV TETALVNSSR ELFHLFRQQL YNLETLLQSS CDFGKVSTLH
121 CKADNIRQQC VLFLHYVKVF IFRYLKVQNA ESHVPVHPYE ALEAQLPSVL IDELHGLLLY
181 IGHLSELPSV NIGAFVNQNQ IKLFPPSWHL LHLHLDIHWL VLEILYMLGE KLKQVVYGHQ
241 FMNLASDNLT NISLFEEHCE TLLCDLISLS LNRYDKVRSS ESLMSDQCPC LCIKELWVLL
301 IHLLDHRSKW FVSESFWNWL NKLLKTLLEK SSDRRRSSMP VIQSRDPLGF SWWIITHVAS
361 FYKFDRHGVP DEMRKVESNW NFVEELLKKS ISVQGVILEE QLRMYLHCCL TLCDFWEPNI
421 AIVTILWEYY SKNLNSSFSI SWLPFKGLAN TMKSPLSMLE MVKTCCCDKQ DQELYKSSSS
481 YTIFLCILAK VVKKAMKSNG PHPWKQVKGR IYSKFHQKRM EELTEVGLQN FFSLFLLLAA
541 VAEVEDVASH VLDLLNFLKP AFVTSQRALI WKGHMAFLLM YAQKNLDIGV LAEKFSCAFR
601 EKAKEFLVSK NEEMVQRQTI WTLLSIYIDG VQEVFETSYC LYPSHEKLLN DGFSMLLRAC
661 RESELRTVLS FLQAVLARIR SMHQQLCQEL QRDNVDLFVQ SSLSAKERHL AAVASALWRH
721 FFSFLKSQRM SQVVPFSQLA DAAADFTLLA MDMPSTAPSD FQPQPVISII QLFGWDDIIC
781 PQVVARYLSH VLQNSTLCEA LSHSGYVSFQ ALTVRSWIRC VLQMYIKNLS GPDDLLIDKN
841 LEEAVEKEYM KQLVKLTRLL FNLSEVKSIF SKAQVEYLSI SEDPKKALVR FFEAVGVTYG
901 NVQTLSDKSA MVTKSLEYLG EVLKYIKPYL GKKVFSAGLQ LTYGMMGILV KSWAQIFATS
961 KAQKLLFRII DCLLLPHAVL QQEKELPAPM LSAIQKSLPL YLQGMCIVCC QSQNPNAYLN
1021 QLLGNVIEQY IGRFLPASPY VSDLGQHPVL LALRNTATIP PISSLKKCIV QVIRKSYLEY
1081 KGSSPPPRLA SILAFILQLF KETNTDIYEV ELLLPGILKC LVLVSEPQVK RLATENLQYM
1141 VKACQVGSEE EPSSQLTSVF RQFIQDYGMR YYYQVYSILE TVATLDQQVV IHLISTLTQS
1201 LKDSEQKWGL GRNIAQREAY SKLLSHLGQM GQDEMQRLEN DNTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MMS22L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 6.7 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 6.7 nTPM
- testis: 6.4 nTPM
- thymus: 4.9 nTPM
- lymph node: 3.2 nTPM
- tonsil: 3.2 nTPM
- skin: 2.7 nTPM
Single-cell type
- erythrocyte progenitors: 182 nCPM
- neutrophil progenitors: 159 nCPM
- early primary spermatocytes: 132 nCPM
- megakaryocyte progenitors: 120 nCPM
- monocyte progenitors: 118 nCPM
- late primary spermatocytes: 113 nCPM
Immune cell
- non-classical monocyte: 1.6 nTPM
- plasmacytoid DC: 1.2 nTPM
- myeloid DC: 1.1 nTPM
- naive CD8 T-cell: 1.1 nTPM
- MAIT T-cell: 1 nTPM
- memory CD8 T-cell: 1 nTPM
Brain region
- white matter: 7 nTPM
- medulla oblongata: 6.7 nTPM
- basal ganglia: 5.8 nTPM
- pons: 5.8 nTPM
- thalamus: 5.2 nTPM
- midbrain: 5 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.29
- DepMap mean gene effect
- -1.58
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin organization
- double-strand break repair via homologous recombination
- protein localization to chromatin
- replication fork processing
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- MMS22-like, C-terminal
- Protein MMS22-like, N-terminal
- Protein MMS22-like
- S-phase genomic integrity recombination mediator, N-terminal
- S-phase genomic integrity recombination mediator, C-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MMS22L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MMS22L as an antibody target. Whether an autoantibody or antibody against MMS22L could matter depends on whether native MMS22L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MMS22L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MMS22L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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