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    CSPP1 centrosome and spindle pole associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 79848, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CSPP1provided by HGNC
    Official Full Name
    centrosome and spindle pole associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:26193
    See related
    Ensembl:ENSG00000104218 MIM:611654; AllianceGenome:HGNC:26193
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSPP; CSPP-L; JBTS21
    Summary
    This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
    Expression
    Broad expression in testis (RPKM 7.4), kidney (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CSPP1 in Genome Data Viewer
    Location:
    8q13.1-q13.2
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (67064368..67196614)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67488869..67623074)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67976603..68108849)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27495 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:67976583-67976770 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:68012735-68012945 Neighboring gene COP9 signalosome subunit 5 Neighboring gene RNA, 5S ribosomal pseudogene 268 Neighboring gene uncharacterized LOC124901956 Neighboring gene ARF guanine nucleotide exchange factor 1 Neighboring gene nucleophosmin 1 pseudogene 44 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68153855-68154652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68221915-68222570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68222571-68223225 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68255030-68255710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68261316-68261816 Neighboring gene ARFGEF1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 12286 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1934 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68280925-68281630 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68281631-68282336 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:68293145-68293756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27499 Neighboring gene ribosomal protein L17 pseudogene 31 Neighboring gene carboxypeptidase A6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:68424545-68425147 Neighboring gene uncharacterized LOC105375886 Neighboring gene NACA pseudogene 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutations in CSPP1 lead to classical Joubert syndrome. Akizu N, et al. Am J Hum Genet, 2014 Jan 2. PMID 24360807, Free PMC Article
    2. CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation. Sternemalm J, et al. PLoS One, 2015. PMID 26241740, Free PMC Article
    3. Roles of circ-CSPP1 on the proliferation and metastasis of glioma cancer. Xue YF, et al. Eur Rev Med Pharmacol Sci, 2020 May. PMID 32495924
    4. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Shaheen R, et al. Am J Hum Genet, 2014 Jan 2. PMID 24360803, Free PMC Article
    5. Nuclear CSPP1 expression defined subtypes of basal-like breast cancer. Sternemalm J, et al. Br J Cancer, 2014 Jul 15. PMID 24901235, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CSPP1 stabilizes growing microtubule ends and damaged lattices from the luminal side.
      Title: CSPP1 stabilizes growing microtubule ends and damaged lattices from the luminal side.
    2. Circle RNA circCSPP1 promotes human osteosarcoma cell proliferation and increases glucose metabolism by suppressing miR-200c maturation.
      Title: Circle RNA circCSPP1 promotes human osteosarcoma cell proliferation and increases glucose metabolism by suppressing miR-200c maturation.
    3. Roles of circ-CSPP1 on the proliferation and metastasis of glioma cancer.
      Title: Roles of circ-CSPP1 on the proliferation and metastasis of glioma cancer.
    4. Tumor-promoting effect was inhibited after we transfected miR-1236-3p into circ-CSPP1 overexpressing OC cells.
      Title: circ-CSPP1 promotes proliferation, invasion and migration of ovarian cancer cells by acting as a miR-1236-3p sponge.
    5. Microtubule-independent but desmoplakin-dependent localization of CSPP-L to desmosomes occurs in apical-basal polarized epithelial cells. CSPP-L depletion promoted multi-lumen spheroid formation in Caco-2 cells.
      Title: CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation.
    6. propose that CSPP1 cooperates with CENP-H on kinetochores to serve as a novel regulator of kinetochore microtubule dynamics for accurate chromosome segregation
      Title: Mitotic Protein CSPP1 Interacts with CENP-H Protein to Coordinate Accurate Chromosome Oscillation in Mitosis.
    7. Differential expression of a nuclear CSPP1 isoform identified biologically and clinically distinct subgroups of basal-like breast carcinoma.
      Title: Nuclear CSPP1 expression defined subtypes of basal-like breast cancer.
    8. CSPP1 mutations are a major cause of the Joubert-Jeune phenotype in humans.
      Title: Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
    9. Our data suggest that CSPP1 is required for proper primary cilium formation or stability and that CSPP1 mutations result in abnormal mid-hindbrain development.
      Title: Mutations in CSPP1 lead to classical Joubert syndrome.
    10. mutations in CSPP1 were associated with variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele
      Title: Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Joubert syndrome 21
    MedGen: C3810212 OMIM: 615636 GeneReviews: Joubert Syndrome
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of centrosome and spindle pole associated protein 1 (CSPP1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22490, FLJ38886

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell division IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosome and spindle pole-associated protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034100.1 RefSeqGene

      Range
      5025..137247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291339.2 → NP_001278268.1  centrosome and spindle pole-associated protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR, and lacks an in-frame portion of the 5' coding region and an internal in-frame exon, compared to variant 1. The resulting isoform (2, also known as CSPP) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AJ583433, AK026143, AK308372, AM156947, CA447290, DB030075
      Consensus CDS
      CCDS78344.1
      UniProtKB/TrEMBL
      A0A7I2V5P5
      Related
      ENSP00000430092.1, ENST00000519668.1

    2. NM_001363131.2 → NP_001350060.1  centrosome and spindle pole-associated protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC087359, AC109335, CA447290, DA177690
      Consensus CDS
      CCDS94309.1
      UniProtKB/TrEMBL
      A0A6Q8PF96, A0A7I2V4L2
      Related
      ENSP00000501676.1, ENST00000675955.1

    3. NM_001363132.2 → NP_001350061.1  centrosome and spindle pole-associated protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AM156947, BG698003, BM555375, BX649147, CA447290, DB046430, DW426634, HY040643
      Consensus CDS
      CCDS94308.1
      UniProtKB/TrEMBL
      A0A6Q8PF61, A0A6Q8PHN8
      Related
      ENSP00000502747.1, ENST00000675869.1

    4. NM_001363133.2 → NP_001350062.1  centrosome and spindle pole-associated protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC087359, BG698003, BM555375, CA447290, DA177690
      Consensus CDS
      CCDS94310.1
      UniProtKB/TrEMBL
      A0A6Q8PGS3, A0A7I2V3M9
      Related
      ENSP00000502421.1, ENST00000675306.2

    5. NM_001364869.1 → NP_001351798.1  centrosome and spindle pole-associated protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC087359, AC109335
      Consensus CDS
      CCDS94301.1
      UniProtKB/TrEMBL
      A0A7I2PHE7, A0A7I2V372
      Related
      ENSP00000262210.6, ENST00000262210.11

    6. NM_001364870.1 → NP_001351799.1  centrosome and spindle pole-associated protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC087359, AC109335
      Consensus CDS
      CCDS94304.1
      UniProtKB/TrEMBL
      A0A7I2V372, A0A7I2V5L8
      Related
      ENSP00000504342.1, ENST00000676882.1

    7. NM_001382391.1 → NP_001369320.1  centrosome and spindle pole-associated protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC087359, AC109335
      Consensus CDS
      CCDS94307.1
      UniProtKB/TrEMBL
      A0A6Q8PF61, A0A7I2V5W3
      Related
      ENSP00000504733.1, ENST00000678616.1

    8. NM_024790.6 → NP_079066.5  centrosome and spindle pole-associated protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as CSPP-L).
      Source sequence(s)
      AM156947, BX649147, CA447290
      Consensus CDS
      CCDS43744.1
      UniProtKB/TrEMBL
      A0A7I2V372
      Related
      ENSP00000502047.1, ENST00000676317.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      67064368..67196614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517598.3 → XP_011515900.2  centrosome and spindle pole-associated protein 1 isoform X1

    2. XM_047422253.1 → XP_047278209.1  centrosome and spindle pole-associated protein 1 isoform X16

    3. XM_047422245.1 → XP_047278201.1  centrosome and spindle pole-associated protein 1 isoform X7

    4. XM_047422257.1 → XP_047278213.1  centrosome and spindle pole-associated protein 1 isoform X20

    5. XM_005251305.5 → XP_005251362.3  centrosome and spindle pole-associated protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A6ND63, Q1MSJ5, Q70F00, Q8TBC1
      Related
      ENSP00000502454.1, ENST00000674993.1

    6. XM_047422254.1 → XP_047278210.1  centrosome and spindle pole-associated protein 1 isoform X17

    7. XM_006716474.4 → XP_006716537.3  centrosome and spindle pole-associated protein 1 isoform X9

    8. XM_047422244.1 → XP_047278200.1  centrosome and spindle pole-associated protein 1 isoform X4

    9. XM_017013847.3 → XP_016869336.2  centrosome and spindle pole-associated protein 1 isoform X6

    10. XM_006716477.4 → XP_006716540.3  centrosome and spindle pole-associated protein 1 isoform X21

    11. XM_011517599.3 → XP_011515901.2  centrosome and spindle pole-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A7I2V4R5
      Related
      ENSP00000503878.1, ENST00000678542.1

    12. XM_047422249.1 → XP_047278205.1  centrosome and spindle pole-associated protein 1 isoform X12

    13. XM_047422246.1 → XP_047278202.1  centrosome and spindle pole-associated protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A7I2V5N5
      Related
      ENSP00000504516.1, ENST00000677592.1

    14. XM_017013854.3 → XP_016869343.2  centrosome and spindle pole-associated protein 1 isoform X22

      UniProtKB/TrEMBL
      A0A7I2YQH9
      Related
      ENSP00000503690.1, ENST00000678318.1

    15. XM_047422260.1 → XP_047278216.1  centrosome and spindle pole-associated protein 1 isoform X25

    16. XM_011517601.3 → XP_011515903.2  centrosome and spindle pole-associated protein 1 isoform X5

    17. XM_047422256.1 → XP_047278212.1  centrosome and spindle pole-associated protein 1 isoform X19

      Related
      ENSP00000503297.1, ENST00000677009.1

    18. XM_047422252.1 → XP_047278208.1  centrosome and spindle pole-associated protein 1 isoform X15

    19. XM_017013849.3 → XP_016869338.2  centrosome and spindle pole-associated protein 1 isoform X10

    20. XM_047422255.1 → XP_047278211.1  centrosome and spindle pole-associated protein 1 isoform X18

      UniProtKB/TrEMBL
      A0A7I2V3Z9
      Related
      ENSP00000503711.1, ENST00000676471.1

    21. XM_047422259.1 → XP_047278215.1  centrosome and spindle pole-associated protein 1 isoform X24

      Related
      ENSP00000504522.1, ENST00000677619.1

    22. XM_047422261.1 → XP_047278217.1  centrosome and spindle pole-associated protein 1 isoform X26

      UniProtKB/TrEMBL
      A0A7I2V5J9
      Related
      ENSP00000504532.1, ENST00000676573.1

    23. XM_047422250.1 → XP_047278206.1  centrosome and spindle pole-associated protein 1 isoform X13

    24. XM_047422247.1 → XP_047278203.1  centrosome and spindle pole-associated protein 1 isoform X11

    25. XM_047422258.1 → XP_047278214.1  centrosome and spindle pole-associated protein 1 isoform X23

    26. XM_047422251.1 → XP_047278207.1  centrosome and spindle pole-associated protein 1 isoform X14

    27. XM_047422262.1 → XP_047278218.1  centrosome and spindle pole-associated protein 1 isoform X27

    28. XM_011517611.4 → XP_011515913.1  centrosome and spindle pole-associated protein 1 isoform X28

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      67488869..67623074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361254.1 → XP_054217229.1  centrosome and spindle pole-associated protein 1 isoform X32

    2. XM_054361267.1 → XP_054217242.1  centrosome and spindle pole-associated protein 1 isoform X35

    3. XM_054361263.1 → XP_054217238.1  centrosome and spindle pole-associated protein 1 isoform X34

    4. XM_054361250.1 → XP_054217225.1  centrosome and spindle pole-associated protein 1 isoform X30

    5. XM_054361260.1 → XP_054217235.1  centrosome and spindle pole-associated protein 1 isoform X33

    6. XM_054361247.1 → XP_054217222.1  centrosome and spindle pole-associated protein 1 isoform X29

    7. XM_054361252.1 → XP_054217227.1  centrosome and spindle pole-associated protein 1 isoform X31

    8. XM_054361264.1 → XP_054217239.1  centrosome and spindle pole-associated protein 1 isoform X16

    9. XM_054361255.1 → XP_054217230.1  centrosome and spindle pole-associated protein 1 isoform X7

    10. XM_054361268.1 → XP_054217243.1  centrosome and spindle pole-associated protein 1 isoform X20

    11. XM_054361249.1 → XP_054217224.1  centrosome and spindle pole-associated protein 1 isoform X3

    12. XM_054361265.1 → XP_054217240.1  centrosome and spindle pole-associated protein 1 isoform X17

    13. XM_054361257.1 → XP_054217232.1  centrosome and spindle pole-associated protein 1 isoform X9

    14. XM_054361251.1 → XP_054217226.1  centrosome and spindle pole-associated protein 1 isoform X4

    15. XM_054361253.1 → XP_054217228.1  centrosome and spindle pole-associated protein 1 isoform X6

    16. XM_054361269.1 → XP_054217244.1  centrosome and spindle pole-associated protein 1 isoform X21

    17. XM_054361248.1 → XP_054217223.1  centrosome and spindle pole-associated protein 1 isoform X2

    18. XM_054361256.1 → XP_054217231.1  centrosome and spindle pole-associated protein 1 isoform X8

    19. XM_054361270.1 → XP_054217245.1  centrosome and spindle pole-associated protein 1 isoform X22

    20. XM_054361273.1 → XP_054217248.1  centrosome and spindle pole-associated protein 1 isoform X25

    21. XM_054361258.1 → XP_054217233.1  centrosome and spindle pole-associated protein 1 isoform X10

    22. XM_054361266.1 → XP_054217241.1  centrosome and spindle pole-associated protein 1 isoform X18

    23. XM_054361272.1 → XP_054217247.1  centrosome and spindle pole-associated protein 1 isoform X24

    24. XM_054361274.1 → XP_054217249.1  centrosome and spindle pole-associated protein 1 isoform X26

    25. XM_054361261.1 → XP_054217236.1  centrosome and spindle pole-associated protein 1 isoform X13

    26. XM_054361259.1 → XP_054217234.1  centrosome and spindle pole-associated protein 1 isoform X11

    27. XM_054361271.1 → XP_054217246.1  centrosome and spindle pole-associated protein 1 isoform X23

    28. XM_054361262.1 → XP_054217237.1  centrosome and spindle pole-associated protein 1 isoform X14

    29. XM_054361275.1 → XP_054217250.1  centrosome and spindle pole-associated protein 1 isoform X27

    30. XM_054361276.1 → XP_054217251.1  centrosome and spindle pole-associated protein 1 isoform X28

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001077204.1: Suppressed sequence

      Description
      NM_001077204.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1MSJ5.4 GenPept UniProtKB/Swiss-Prot:Q1MSJ5

    Gene LinkOut

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