LARP7 - La ribonucleoprotein 7, transcriptional regulator Gene

Also Known as ALAZS; PIP7S; hLARP7; HDCMA18P

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51574

About LARP7

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:112,637,143-112,657,586 (from NCBI)

This gene has 39 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 17.7), thyroid (RPKM 16.5) and 25 other tissues.

Summary

This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

LARP7 Products (12)

mRNA Protein Name
NM_001267039.4 NP_001253968.2 la-related protein 7 isoform 1
NM_001370974.1 NP_001357903.1 la-related protein 7 isoform 3
NM_001370975.1 NP_001357904.1 la-related protein 7 isoform 3
NM_001370976.1 NP_001357905.1 la-related protein 7 isoform 4
NM_001370977.1 NP_001357906.1 la-related protein 7 isoform 4
NM_001370978.1 NP_001357907.1 la-related protein 7 isoform 1
NM_001370979.1 NP_001357908.1 la-related protein 7 isoform 5
NM_001370980.1 NP_001357909.1 la-related protein 7 isoform 5
NM_001370981.1 NP_001357910.1 la-related protein 7 isoform 6
NM_001370982.1 NP_001357911.1 la-related protein 7 isoform 6
NM_015454.3 NP_056269.1 la-related protein 7 isoform 1
NM_016648.4 NP_057732.2 la-related protein 7 isoform 1
Molecular Function GO Annotation Evidence References Source
enables 7SK snRNA binding IDA
IDA: Inferred from direct assay
18249148 GOA
enables U6 snRNA binding IDA
IDA: Inferred from direct assay
32017898 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18281698 GOA
Biological Process GO Annotation Evidence References Source
involved in U6 2'-O-snRNA methylation IMP
IMP: Inferred from mutant phenotype
32017898 GOA
involved in box C/D sno(s)RNA 3'-end processing IMP
IMP: Inferred from mutant phenotype
32017898 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
18483487 GOA
involved in negative regulation of viral transcription IMP
IMP: Inferred from mutant phenotype
18249148 GOA
involved in positive regulation of protein localization to Cajal body IDA
IDA: Inferred from direct assay
28254838 GOA
involved in positive regulation of snRNA transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
28254838 GOA
involved in regulation of mRNA splicing, via spliceosome IMP
IMP: Inferred from mutant phenotype
32017898 GOA
Cellular Component GO Annotation Evidence References Source
part of 7SK snRNP IDA
IDA: Inferred from direct assay
18249148 GOA
located in nucleus IDA
IDA: Inferred from direct assay
28254838 GOA
part of ribonucleoprotein complex IDA
IDA: Inferred from direct assay
19906723 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LARP7 Protein Structure

La

La: La domain (38 - 97)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (127 - 188)

RRM_3

RRM_3: RNA binding motif (454 - 552)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 582 a.a.
Protein Preferred Names Protein Names

la-related protein 7

  • La ribonucleoprotein domain family member 7

LARP7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
LARP7 Q4G0J3 CDK9 Homo sapiens P50750 35271311
Intra
LARP7 Q4G0J3 CDK9 Homo sapiens P50750 18483487
Intra
LARP7 Q4G0J3 CDK9 Homo sapiens P50750 33961781
Intra
LARP7 Q4G0J3 CDK9 Homo sapiens P50750
TAP
18281698
Intra
LARP7 Q4G0J3 CDK9 Homo sapiens P50750 18483487
Intra
LARP7 Q4G0J3 CDK9 Homo sapiens P50750 18281698
Intra
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992 35271311
Intra
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992 18281698
Intra
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992
TAP
18281698
Intra
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992 33961781
Intra
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992 18483487
Intra
LARP7 Q4G0J3 DDX21 Homo sapiens Q9NR30 33961781
Intra
LARP7 Q4G0J3 OASL Homo sapiens Q15646 30833792
Intra
LARP7 Q4G0J3 LRRK2 Homo sapiens Q5S007 29513927
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Alazami Syndrome
  • Microcephalic Primordial Dwarfism, Alazami Type

  • ALAZS

  • Facial Dysmorphism, Intellectual Disability, And Primordial Dwarfism

  • Facial Dysmorphism Intellectual Disability And Primordial Dwarfism

Smith-Lemli-Opitz Syndrome
  • SLOS

  • Rsh Syndrome

  • 7-Dehydrocholesterol Reductase Deficiency

  • Slo Syndrome

  • Rutledge Lethal Multiple Congenital Anomaly Syndrome

  • Lethal Acrodysgenital Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

  • Smith-Opitz-Inborn Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

  • Smith Lemli Opitz Syndrome

  • Smith-Lemli-Opitz Syndrome, Type Ii

Coffin-Siris Syndrome 9
  • Mrd27

  • CSS9

  • Mental Retardation, Autosomal Dominant 27

  • Autosomal Dominant Mental Retardation 27

  • Autosomal Dominant Non-Syndromic Intellectual Disability 27

  • Coffin-Siris Syndrome, Type 9

Isolated Growth Hormone Deficiency, Type Ia
  • Ighd Ia

  • Primordial Dwarfism

  • Isolated Growth Hormone Deficiency Type Ia

  • Sexual Ateleiotic Dwarfism

  • Pituitary Dwarfism I

  • IGHD1A

  • Illig-Type Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated, Type Ia

  • Congenital Ighd Type Ia

  • Congenital Isolated Gh Deficiency Type Ia

  • Congenital Isolated Growth Hormone Deficiency Type Ia

  • Pituitary Dwarfism 1

  • Growth Hormone Deficiency, Isolated, Autosomal Recessive

  • Autosomal Recessive Isolated Growth Hormone Deficiency

  • Isolated Growth Hormone Deficiency Type 1a

  • Congenital Ighd

  • Congenital Isolated Gh Deficiency

  • Congenital Isolated Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated Autosomal Recessive

  • Illig Type Growth Hormone Deficiency

  • Non-Acquired Isolated Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated, 1a

  • Growth Hormone Deficiency Isolated Autosomal Recessive

  • Dwarfism, Primordial

  • Dwarfism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris LARP7 VGNC VGNC:42591
Rattus norvegicus LARP7 RGD RGD:1592474
Felis catus LARP7 VGNC VGNC:63196
Macaca mulatta LARP7 VGNC VGNC:74118
Mus musculus LARP7 MGD MGI:107634
Bos taurus LARP7 VGNC VGNC:30794
Others LARP7 NCBI